A genetic analysis of retinitis pigmentosa.

Genetic analysis of 457 patients with retinitis pigmentosa (RP) included categorisation of families by recognised mendelian pattern of inheritance and formal segregation analysis of all informative sibships. Of the 368 probands a surprisingly high 18% (68) had significant congenital loss of hearing and were diagnosed as having Usher syndrome. The RP probands were categorised as: 21.7% autosomal dominant, 9.0% X-linked, 16.0% autosomal recessive, 3.3% genetic type uncertain, and 50.0% simplex. Segregation analysis reflected this high proportion of simplex cases, accounting for reduced penetrance in dominant families; only 20% remain classified as sporadic (possibly nongenetic). In the matings between normal persons estimates of the segregation ratio also indicate lower values than expected. Unlike in RP sibship, segregation in the Usher syndrome is consistent with the hypothesis of recessive inheritance. Therefore RP with significant hearing loss segregates as expected, while even if a proband is classified as a dominant or recessive the recurrence risk for the RP phenotype may be below mendelian expectation.     

Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F

PURPOSE: To examine the clinical picture and molecular genetics of 12 Norwegian families with autosomal dominant retinitis pigmentosa (adRP) in order to achieve a genotype-phenotype correlation. METHODS: In addition to a clinical ophthalmological examination, fundus photography, dark adaptometry and electroretinography were performed. Four genes were analysed: rhodopsin (RHO); retinitis pigmentosa 1 (RP1); retinal degeneration slow/peripherin (RDS/peripherin), and inosine monophosphate dehydrogenase 1 (IMPDH1). Seven of the families had been examined about 20 years previously. A total of 63 patients or first-degree relatives (aged 18-79 years) were examined. RESULTS: Mutations were found only in the RHO gene. Seven families were given a diagnosis of classical RP. Two of them had novel mutation 1003delG, and one family had the mutation V345M. Four families had pericentral retinal dystrophy (PRD), two families with the mutation A164V and one with novel mutation I179F. One family was given a diagnosis of central and pericentral retinal dystrophy (CPRD), a special type of cone/rod dystrophy, and no mutation was found. CONCLUSIONS: Six of 12 families had an RHO mutation. The mutation V345M and the novel mutation 1003delG both caused classical RP, the former indicating the most unfavourable prognosis. Two of the families with PRD had the A164V mutation with a favourable prognosis, whereas the novel mutation I179F caused PRD with extremely variable expressivity.     

Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update

Purpose To examine the presence and functional significance of annular fundus autofluorescence abnormalities in patients with different retinal dystrophies. Methods Eighty one patients were ascertained who had a parafoveal ring of high density on fundus autofluorescence imaging. Sixty two had had a clinical diagnosis of retinitis pigmentosa (RP) or Usher syndrome with normal visual acuity. Others included a case of Leber congenital amaurosis and genetically confirmed cases of cone or cone-rod dystrophy (GUCA1A, RPGR, RIMS1), “cone dystrophy with supernormal rod ERG” (KCNV2) and X-linked retinoschisis (RS1). International-standard full-field and pattern electroretinography (ERG; PERG) were performed. Some patients with rod-cone or cone-rod dystrophy underwent multifocal ERG (mfERG) testing and photopic and scotopic fine matrix mapping (FMM). Results In patients with RP, the radius of the parafoveal ring of high density correlated with PERG P50 (R = 0.83, P < 0.0005, N = 62) and encircled areas of preserved photopic function. In the other patients, AF rings either resembled those seen in RP or encircled an area of central atrophy. Ring radius was inversely related to the PERG P50 component in 4 of 18 cases with a detectable response. FMM showed that arcs of high density were associated with a gradient of sensitivity change. Conclusions Parafoveal rings of high density autofluorescence are a non-specific manifestation of retinal dysfunction that can occur in different retinal dystrophies. Electrophysiology remains essential for accurate diagnosis. The high correlation of autofluorescence with PERG, mfERG and FMM demonstrates that AF abnormalities have functional significance and may help identify suitable patients and retinal areas amenable to future therapeutic intervention.     

A survey of hereditary aspects of pigmentary retinal dystrophies

A study of 707 cases of retinitis pigmentosa and choroideraemia presenting over 12 years were classified according to their modes of inheritance-439 autosomal recessive (62%), 193 autosomal dominant (27%), 75 X-linked (10.7%). The patients with autosomal recessive transmission included 58 Usher syndrome, 12 Laurence-Moon-Bardet-Biedl syndrome and 33 Leber's congenital amaurosis. Another 37 had an early onset with macular degeneration and 31 were of late onset with pericentral dystrophy. Forty two were offspring of consanguineous parents. Of 193 individuals (78 families) with autosomal dominant inheritance, 20% had night blindness from early childhood. With X-linked transmission, 33 males and 31 female carriers comprised the retinitis pigmentosa group and eight males and three carrier females, choroideraemia. Almost all this X-linked group were of British ancestry. Of patients originating from the Mediterranean area, 94% had autosomal recessive disease.     

A survey of hereditary aspects of pigmentary retinal dystrophies

A study of 707 cases of retinitis pigmentosa and choroideraemia presenting over 12 years were classified according to their modes of inheritance--439 autosomal recessive (62%), 193 autosomal dominant (27%), 75 X-linked (10.7%). The patients with autosomal recessive transmission included 58 Usher syndrome, 12 Laurence-Moon-Bardet-Biedl syndrome and 33 Leber's congenital amaurosis. Another 37 had an early onset with macular degeneration and 31 were of late onset with pericentral dystrophy. Forty two were offspring of consanguineous parents. Of 193 individuals (78 families) with autosomal dominant inheritance, 20% had night blindness from early childhood. With X-linked transmission, 33 males and 31 female carriers comprised the retinitis pigmentosa group and eight males and three carrier females, choroideraemia. Almost all this X-linked group were of British ancestry. Of patients originating from the Mediterranean area, 94% had autosomal recessive disease.     

Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC

Background:To describe the clinical and genetic findings in a Chinese family with three sibs diagnosed with Usher syndrome type IIC.

Materials and Methods: Four members received ophthalmic and otologic tests to ascertain the clinical characteristics. According to the clinical phenotype, we focused attention on a total of 658 genes associated with them. We screened the possible pathogenic mutation sites, used Sanger to exclude the false positive and verified whether there were co-segregated among the family members. Results:Typical fundus features found in the proband supported the diagnosis of retinitis pigmentosa (RP). Audiometric test indicated moderate to severe sensorineural hearing impairment while the vestibular function was normal. Whole-exome sequencing identified the presence of two novel compound heterozygous mutations in ADGRV1, a known gene responsible for Usher syndrome type IIC. Mutationc.15008delG/p.Gly5003AlafsTer13 was inherited from the mother while c.18383_18386dupACAG/p.His6130GlnfsTer84 was inherited from the father, and they were co-segregated with the disease phenotype in the family. Conclusions: The mutations found in our study not only broaden the mutation spectrum of ADGRV1, but also provide assistances for future genetic diagnosis and treatment for Usher syndrome patients.     

Retinitis pigmentosa in Usher syndrome in India: Electronic medical records driven big data analytics: Report III

Purpose:To describe the clinical presentation and demographic distribution of retinitis pigmentosa (RP) in patients with Usher syndrome (USH).Methods: This is a cross-sectional observational hospital-based study including patients presenting between March 2012 and October 2020. In total, 401 patients with a clinical diagnosis of USH and RP in at least one eye were included as cases. The data were retrieved from the electronic medical record database. For better analysis, all 401 patients were reclassified into three subtypes (type 1, type 2, and type 3) based on the USH criteria.Results: In total, there were 401 patients with USH and RP, with a hospital-based prevalence rate of 0.02% or 2/10,000 population. Further, 353/401 patients were subclassified, with 121 patients in type 1, 146 patients in type 2, and 86 patients in the type 3 USH group. The median age at presentation was 27 years (IQR: 17.5–38) years. There were 246 (61.35%) males and 155 (38.65%) females. Males were more commonly affected in all three subtypes. Defective night vision was the predominant presenting feature in all types of USH (type 1: 43 (35.54%), type 2: 68 (46.58%), and type 3: 40 (46.51%) followed by defective peripheral vision. Patients with type 2 USH had more eyes with severe visual impairment.Conclusion: RP in USH is commonly bilateral and predominantly affects males in all subtypes. Patients with USH and RP will have more affection of peripheral vision than central vision. The key message of our study is early visual and hearing rehabilitation in USH patients with prompt referral to otolaryngologists from ophthalmologists and vice versa.     

Comparative study of visual, auditory, and olfactory function in Usher syndrome

· Background: Usher syndrome is a genotypically and phenotypically heterogeneous group of autosomal recessive diseases featuring retinitis pigmentosa (RP) and sensorineural hearing loss. A general ciliary dysfunction has been suspected following reports of a mutated cytoskeletal protein (myosin VIIA) in type IB, and preliminary data has suggested an olfactory deficit. The purpose of this study was to quantitatively assess olfactory function in Usher syndrome patients and to search for a correlation between the degree of impairment of the three sensory systems as indication of an underlying ciliary defect. · Methods: 39 patients with Usher syndrome (8 type I, 31 type II) were examined. The ophthalmologic protocol included patient history, visual acuity, eye morphology, Goldmann perimetry, and electroretinography. The ENT protocol included a thorough examination, speech-recognition test, pure-tone audiometry and an olfactory function test. · Results: In both groups, visual acuity was typically 20/40, the remaining visual field area was small, and the ERG responses were low to non-detectable. Average hearing loss was 100% in type I and 40% in type II. Olfactory thresholds were normal [median 9.7 (I) and 8.5 (II) vs 8.5 in the control group]. There were multiple significant correlations between parameters of the same organ, but no relationship between parameters of different sensory systems. · Conclusion: Almost all Usher syndrome patients in this study had an advanced form of RP. In contrast, auditory function differed considerably between type I and type II. An impairment of the olfactory system could not be detected, and there was no correlation between parameters representing visual function, hearing ability, and olfactory sense. Received: 6 April 1998 Revised version received: 7 September 1998 Accepted: 8 September 1998     

Epidemiology of retinitis pigmentosa in Denmark

A nation-wide registration of Danish cases of retinitis pigmentosa (RP) provided 1890 persons diagnosed during the period 1850-1989. Prevalent at 1 January 1988 were 1301 persons (1:3943) comprising a multitude of different RP-types. Age specific prevalence rates demonstrated increasing rates of RP during the first four decades of life and a rather stable prevalence over the next 20-30 years. Corrected for incompleteness, a late decrease was found, reflecting an incomplete ascertainment of the oldest patients. A moving average method indicated an even later steady state value for the age-specific prevalence. The Danish prevalence figures were standardized according to the WHO World Standardized Prevalence Rates and compared with large studies from the USA and UK. No statistically significant difference was found. Usher syndrome was present in 12% of all RP-cases and Bardet-Biedl syndrome comprised 5%. Mental retardation was found in 144 cases (11%), mostly characterized by atypical RP. Nineteen per cent of patients affected by nonsystemic RP had an onset later than 30 years of age, whereas only a few per cent of persons with systemic RP had an RP onset after age 30 years. The Mendelian inheritance type of all cases was evaluated according to an unambiguous genetic classification, finding a larger amount of X-linked RP compared with other studies. Among nonsystemic RP-cases, 14.3% were found to be inherited as an X-linked trait whereas only 8.4% were autosomal dominantly inherited. The largest fraction was, as in previous materials, the simplex group (isolated cases) comprising 42.9% of the nonsystemic RP patients. Some factors influencing the results are discussed, with special emphasis on the problems associated with precise definitions of the Mendelian inheritance groups. A diagram according to the author's definition was constructed as a guideline ready for clinical application.     

Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa

OBJECTIVE: To investigate the clinical spectrum and molecular causes of retinal dystrophies in 3 families. DESIGN: Family molecular genetics study. PARTICIPANTS: Sixteen patients and 15 relatives in 3 families. METHODS: Members of 3 families with multiple ABCA4-associated retinal disorders were clinically evaluated. Deoxyribonucleic acid samples of all affected individuals and their family members were analyzed for variants in all 50 exons of the ABCA4 gene. MAIN OUTCOME MEASURES: ABCA4-associated retinal phenotypes and mutations in the ABCA4 gene. RESULTS: In family A, 2 sisters were diagnosed with Stargardt's disease (STGD); the eldest sister was compound heterozygous for the mild 2588G-->C and the severe 768G-->T mutation. Another patient in this family with a severe type of retinitis pigmentosa (RP) carried the 768G-->T mutation homozygously. In family B, 2 siblings presented with an RP of severity similar to that encountered in family A. Both were homozygous for the severe IVS33+1G-->A mutation. Two other family members with STGD were compound heterozygous for the 2588G-->C and IVS33+1G-->A mutations. In family C, all 5 siblings of generation II demonstrated age-related macular degeneration (AMD). In generations III and IV, 2 STGD patients and 1 cone-rod dystrophy (CRD) patient were present. In 1 STGD patient we identified a heterozygous 768G-->T mutation. Sequence analysis of the entire ABCA4 gene did not reveal the remaining 2 mutations. Nevertheless, the 2 patients with STGD, the patient with CRD, and 2 of the AMD patients shared a common haplotype spanning the ABCA4 gene. CONCLUSIONS: Different mutations in the ABCA4 gene are the cause of STGD and RP or CRD in at least 2 and, possibly, 3 families. Patients with RP caused by ABCA4 mutations are characterized by an early onset and rapid progression of their retinal dystrophy, with extensive chorioretinal atrophy resulting in a very low visual acuity. Various combinations of relatively rare retinal disorders such as STGD, CRD, and RP in one family may not be as uncommon as once believed, in view of the relatively high carrier frequency of ABCA4 mutations (about 5%) in the general population.     

Molecular updates on Usher syndrome

Usher syndrome (USH) is an autosomal recessive disorder characterized by the association of sensorineural hearing loss and retinitis pigmentosa (RP). Usher syndrome is both clinically and genetically heterogeneous. Three clinical subtypes are defined with respect to vestibular dysfunction and the degree of hearing loss. Type I (USH1) patients have profound hearing loss and vestibular dysfunction from birth. Type II (USH2) is the most frequent and patients tend to have less severe hearing impairment and normal vestibular response. Type III (USH3) is characterized by a progressive loss of hearing and is found more frequently among Finnish patients. Recently, major breakthroughs have been made in the molecular genetics of Usher syndrome as a number of chromosomal loci and causative genes have been identified in each clinical subtype. Twelve loci are known and the corresponding genes have been cloned for six of them. Although their functions are not always clearly established, a common role is emerging for the proteins identified within each subtype. As a result, each subtype could emanate from defects affecting distinct cellular mechanisms.     

A new familial case of Jalili syndrome caused by a novel mutation in CNNM4

Jalili syndrome (JS) is a rare autosomal recessive disorder characterized by the combination of cone-rod dystrophy (CRD) and amelogenesis imperfecta. To date, 18 families with JS have been reported, 16 of which were found to have a mutation in CNNM4. We describe three siblings with clinical features of JS with a homozygous missense mutation in exon 4 of CNNM4, c.1781A>G (p.N594S). They demonstrated phenotypic variability in terms of ocular and dental findings. Although fundus examination and optical coherence tomography results were normal, the electroretinogram was compatible with CRD, supporting the diagnosis of JS. The dental phenotype severity also varied among the siblings.     

Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties

Most patients with Alport syndrome have X-linked or autosomal recessive disease that is characterised by renal failure, hearing loss, and, in nearly 75% of the cases, a dot-and-fleck retinopathy and anterior lenticonus. There are only case reports of individuals with the rare autosomal dominant form, who can have haematuria or renal failure, deafness, and, in addition, low platelet counts and neutrophil inclusions. The ocular features of autosomal dominant inheritance have not been described. We have examined the eyes in the members of two families where Alport syndrome was diagnosed on the basis of the clinical features and family history, and where autosomal dominant inheritance was confirmed by father-to-son disease transmission, the associated haematological abnormalities, and haplotypes that segregated with the recently described locus at chromosome 22q. In Family A, the eyes of two individuals with haematuria, hearing loss, and haematological abnormalities and of nine unaffected family members were examined. In Family B, the eyes of two individuals with renal failure, normal hearing, and haematological abnormalities were examined. None of the affected or unaffected members in either family had a dot-and-fleck retinopathy, anterior lenticonus, a history suggesting recurrent corneal erosions, or corneal dystrophy. These results indicate that the protein abnormality in autosomal dominant Alport syndrome does not produce the retinopathy and lenticonus typical of X-linked and autosomal recessive disease. This may be because the abnormal protein is not present or is less important in the ocular basement membranes than elsewhere, or because the presence of a normal allele in autosomal dominant disease compensates for the defective allele.     

Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties

Most patients with Alport syndrome have X-linked or autosomal recessive disease that is characterised by renal failure, hearing loss, and, in nearly 75% of the cases, a dot-and-fleck retinopathy and anterior lenticonus. There are only case reports of individuals with the rare autosomal dominant form, who can have haematuria or renal failure, deafness, and, in addition, low platelet counts and neutrophil inclusions. The ocular features of autosomal dominant inheritance have not been described. We have examined the eyes in the members of two families where Alport syndrome was diagnosed on the basis of the clinical features and family history, and where autosomal dominant inheritance was confirmed by father-to-son disease transmission, the associated haematological abnormalities, and haplotypes that segregated with the recently described locus at chromosome 22q. In Family A, the eyes of two individuals with haematuria, hearing loss, and haematological abnormalities and of nine unaffected family members were examined. In Family B, the eyes of two individuals with renal failure, normal hearing, and haematological abnormalities were examined. None of the affected or unaffected members in either family had a dot-and-fleck retinopathy, anterior lenticonus, a history suggesting recurrent corneal erosions, or corneal dystrophy. These results indicate that the protein abnormality in autosomal dominant Alport syndrome does not produce the retinopathy and lenticonus typical of X-linked and autosomal recessive disease. This may be because the abnormal protein is not present or is less important in the ocular basement membranes than elsewhere, or because the presence of a normal allele in autosomal dominant disease compensates for the defective allele.     

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome

PurposeTo describe the molecular epidemiology of nonsyndromic retinitis pigmentosa (RP) and Usher syndrome (US) in Italian patients.MethodsA total of 591 probands (315 with family history and 276 sporadics) were analyzed. For 155 of them, we performed a family segregation study, considering a total of 382 relatives. Probands were analyzed by a customized multigene panel approach. Sanger sequencing was used to validate all genetic variants and to perform family segregation studies. Copy number variants of selected genes were analyzed by multiplex ligation-dependent probe amplification. Four patients who tested negative to targeted next-generation sequencing analysis underwent clinical exome sequencing.ResultsThe mean diagnostic yield of molecular testing among patients with a family history of retinal disorders was 55.2% while the diagnostic yield including sporadic cases was 37.4%. We found 468 potentially pathogenic variants, 147 of which were unpublished, in 308 probands and 66 relatives. Mean ages of onset of the different classes of RP were autosomal dominant RP, 19.3 ± 12.6 years; autosomal recessive RP, 23.2 ± 16.6 years; X-linked RP, 13.9 ± 9.9 years; and Usher syndrome, 18.9 ± 9.5 years. We reported potential new genotype-phenotype correlations in three probands, two revealed by TruSight One testing. All three probands showed isolated RP caused by biallelic variants in genes usually associated with syndromes such as PERCHING and Senior-Loken or with retinal dystrophy, iris coloboma, and comedogenic acne syndrome.ConclusionsThis is the largest molecular study of Italian patients with RP in the literature, thus reflecting the epidemiology of the disease in Italy with reasonable accuracy.     

Wilson's disease: presymptomatic patients and Kayser-Fleischer rings

Purpose: To describe new disease-causing RP2 and RPGR-ORF15 mutations and their corresponding clinical phenotypes in Swedish families with X-linked retinitis pigmentosa (XLRP) and to establish genotype-phenotype correlations by studying the clinical spectrum of disease in families with a known molecular defect. Methods: Seventeen unrelated families with RP and an apparent X-linked pattern of disease inheritance were identified from the Swedish RP registry and screened for mutations in the RP2 and RPGR (for the RP3 disease) genes. These families had been previously screened for the RPGR exons 1–19, and disease-causing mutations were identified in four of them. In the remaining 13 families, we sequenced the RP2 gene and the newly discovered RPGR-ORF exon. Detailed clinical evaluations were then obtained from individuals in the three families with identified mutations. Results: Mutations in RP2 and RPGRORF15 were identified in three of the 13 families. Clinical evaluations of affected males and carrier females demonstrated varying degrees of retinal dysfunction and visual handicap, with early onset and severe disease in the families with mutations in the ORF15 exon of the RPGR gene. Conclusions: A total of seven mutations in the RP2 and RPGR genes have been discovered so far in Swedish XLRP families. All affected individuals express a severe form of retinal degeneration with visual handicap early in life, although the degree of retinal dysfunction varies both in hemizygous male patients and in heterozygous carrier females. Retinal disease phenotypes in patients with mutations in the RPGR-ORF15 were more severe than in patients with mutations in RP2 or other regions of the RPGR .     

Choroideremia: a review of general findings and pathogenesis

Choroideremia (CHM) is an X-linked retinal dystrophy belonging to the family of blinding disorders. It is characterized by progressive degeneration of the choriocapillaris, retinal pigment epithelium and photoreceptors. CHM is caused by mutations in the Rab Escort Protein 1 (REP-1) gene, which encodes a protein involved in vesicular trafficking. This paper gives an overview of the clinical features, visual function, biochemistry, histology, molecular genetics, pathogenesis, diagnosis and treatment of CHM.     

Genetik des Usher-Syndroms

Since the first gene (MYO7A) for Usher syndrome was identified 14 years ago, there has been substantial progress in the elucidation of the genetic basis of this disorder, revealing extensive genetic heterogeneity (with nine genes known to date). Most Usher genes have similar functions, localize to similar regions in inner ear hair cells and retinal photoreceptors, and interact with each other. Approximately 80% of the patients carry mutations in one of the known Usher genes. One major challenge for the scientific community is to identify the remaining causative genes. Moreover, it is still largely unclear which genetic factors are responsible for the clinical variability that can be observed even between affected siblings. The establishment of high-throughput techniques shall soon provide comprehensive genetic testing covering all genes, which would be desirable: Early confirmation (or exclusion) of the diagnosis would be important for the individual patient, as it could help predict whether retinal degeneration can be expected in addition to the congenital hearing impairment.     

ABCR unites what ophthalmologists divide(s)

Over the last years, the molecular causes of monogenic chorioretinal diseases have been elucidated at an increasing pace. In contrast, only recently have genetic factors been found that contribute to multifactorial eye disorders such as age-related macular degeneration (AMD). Mutations in the retina-specific ATP-binding cassette transporter gene ( ABCR ) cause recessive Stargardt's disease (STGD) and fundus flavimaculatus (FFM), and were also found in 16% of patients with AMD. In addition, ABCR mutations were identified in families with recessive retinitis pigmentosa (RP), cone dystrophy (COD), and cone-rod dystrophy (CRD). In this review, we summarize these findings and propose a model which provides a framework to explain the observed genotypes and phenotypes. We hypothesize that most ABCR mutations can be classified in different classes of severity, and that, depending on the remaining total activity of ABCR , the phenotype can range from AMD at the mild end to RP at the severe end of the spectrum. This model allows us to make several predictions on the type and/or severity of ABCR mutations that are present in patients with AMD, STGD/FFM, COD, CRD, and RP.     

儿童遗传性视网膜疾病的眼底自身荧光表现

目的 观察儿童遗传性视网膜疾病的眼底自身荧光(FAF)特征.方法 回顾性分析22例临床资料完整、年龄5～14岁之问的遗传性视网膜疾病患儿的FAF检查结果.其中,Best卵黄样病变8例16只眼,Stargardt病3例6只眼,视锥细胞营养不良3例6只眼,原发性视网膜色素变性(RP)5例10只眼,X连锁青少年型视网膜劈裂症3例6只眼.仔细询问现病史及家族史,行视力、裂隙灯显微镜眼前节检查,间接眼底镜检查,彩色眼底像和FAF照相,其中部分患儿接受了荧光素眼底血管造影(FFA)、视网膜电流图、眼电图、光相干断层扫描检查.对上述患儿的FAF结果特征进行归纳总结,并与其眼底照相和/或FFA结果进行比较分析.结果 3例Stargardt病患儿的6只眼及3例视锥细胞营养不良患儿的6只眼FAF检查显示黄斑区可见对称性的圆形、近圆形弱荧光或荧光缺如区,2例视锥细胞营养不良患儿的4只眼及1例Stargardt病患儿的2只眼可见弱荧光或荧光缺如区外缘环以强荧光;Best卵黄样病变患儿黄斑区可见一个强度均匀或不均匀的强FAF病灶;RP患儿后极部视网膜FAF增强,黄斑区周围可见宽度不等的环形强荧光带,拱环区FAF正常;3例X连锁青少年型视网膜劈裂症患儿中5只眼中心凹部位FAF检查可见蜂窝或颗粒状强荧光.结论 Stargardt病及视锥细胞营养不良患儿黄斑区为近圆形弱荧光,部分病变区外缘环以强荧光;Best卵黄样病变患儿黄斑区为强度均匀或不均匀的强FAF病灶;RP患儿后极部视网膜FAF增强,拱环区FAF正常,黄斑区周围可见宽度不等的环形强荧光带;X连锁青少年型视网膜劈裂症患儿中心凹部位为蜂窝或颗粒状强荧光.

Abstract：

Objective To observe the autofluorescence (AF) manifestation in children with hereditary retinal diseases. Methods The clinical data of 22 children (aged from 5 to 14 years) with hereditary retinal diseases were retrospectively analyzed. There were 8 children (16 eyes) with Best vitelliform macular dystrophy, 3 children (6 eyes) with Stargardt macular dystrophy, 3 children (6 eyes) with macular cone dystrophy, 5 children (10 eyes) with primary retinitis pigmentosa, and 3 children (6 eyes) with X-linked juvenile retinoschisis. The routine clinical examinations included present history, family history, visual acuity, silt-lamp microscopy, indirect ophthalmoscopy, color fundus photography and fundus autofluorescence angiography (FAF). Some patients received fundus fluorescein angiography (FFA),electroretinogram (ERG), electrooculogram (EOG), and ocular coherence tomography (OCT). The characteristics of AF in all the children were analyzed, and were compared with the images of color fundus and/or FFA. Results Symmetry round macular fluorescent weak or absent area was found in all Stargardt disease and cone dystrophy. Weak AF area with surrounded circular increased AF was found in 2 children (4 eyes) with cone dystrophy and 1 child (2 eyes) with Stargardt macular dystrophy. A central round area with regular or irregular intense AF was observed in Best vitelliform macular dystrophy. RP children showed increased AF out of the macular region. Cellular or granular strong AF was found in the fovea of 3 children (5 eyes) with X-linked juvenile retinoschisis. Conclusion The children with hereditary retinal diseases had special AF changes.