Cutis marmorata telangiectatica congenita associated with bilateral congenital retinal detachment

Cutis marmorata telangiectatica congenita is a rare congenital vascular disorder of the skin, characterized by persistent telangiectasia of the cutaneous blood vessels often associated with cutaneous ulcers. The only previously recognized ophthalmic association with this condition has been rare instances of unilateral congenital open angle glaucoma. The authors report their observations in a child in whom this cutaneous disorder was associated with congenital bilateral total retinal detachments and secondary neovascular glaucoma. The retinal detachments produced bilateral leukocoria simulating retinoblastoma. The cutaneous disorder and the ocular findings were confirmed histopathologically.     

The glaucoma of encephalo-trigeminal angiomatoses

A study of 9 cases of trigeminal noevus flammeus was performed. Eight had congenital glaucoma and where followed from 1 to 10 years. Only three had intracranial involvement. Hemangiomatosis was often atypical: including cavernous hemangioma, association with cutis marmorata telangiectatica congenital and bilateral involvement. Glaucoma was a mild congenital glaucoma in all cases improved by surgical treatment. Surgery was easily performed and a superficial capillary network on the sclera was seen in all patients. No genetic factor was demonstrated in our patients.     

Late-onset pediatric glaucoma associated with cutis marmorata telangiectatica congenita managed with Molteno implant surgery: case report and review of the literature.

Cutis marmorata telangiectatica congenita (CMTC) is characterized by the appearance of telangiectasia, phlebectasia, and a persistent reticular pattern of subcutaneous vasculature at or soon after birth. Up to 90% of cases are associated with systemic abnormalities, which include body asymmetry, cutaneous atrophy, neurological abnormalities, and vascular anomalies (nevus flammeus, Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and capillary and cavernous hemangiomas). Glaucoma is the most commonly reported ocular association of CMTC, usually presenting in infancy. We report a case of CMTC associated with the previously unreported onset of glaucoma in mid-childhood that was managed by glaucoma drainage implant surgery and review the literature on glaucoma associated with this condition.     

Congenital glaucoma in cutis marmorata teleangiectatica congenita

A case of congenital glaucoma in cutis marmorata teleangiectatica congenita (CMTC, van Lohuizen syndrome) is described. The cutaneous anomaly and heterochromia iridium were noticed at birth. Brown discoloration of one iris was due to iris anterior layer dysplasia, resulting in unilateral glaucoma. Two trabeculotomies were performed until persistent normalization of intraocular pressure could be achieved. The possibility of a genetic basis and hereditary condition of CMTC and its association with congenital glaucoma is discussed. Patients with CMTC should regularly undergo ophthalmological follow-up to rule out development of glaucoma.     

Congenital ectropion uveae presenting as acute glaucoma in a 3-year-old child

Congenital ectropion uveae is a rare anomaly commonly associated with neurofibromatosis and occasionally with other ocular abnormalities. Glaucoma related with this condition may be present in infancy, or may develop later in life, and is thought to be due to an associated angle dysgenesis. Diagnosis is frequently delayed due to the subtle signs and the absence of symptoms and management is primarily surgical. We report an unusual case of unilateral congenital ectropion uveae in a 3-year-old child, with no evidence of neurofibromatosis, presenting as acute glaucoma, which was successfully managed by topical treatment only, avoiding surgical intervention.     

Congenital ectropion uveae and glaucoma

Congenital ectropion uveae is a rare condition which may be present in one or both eyes. If the patient is followed glaucoma will always be found to be present. Associated features which have been described are ptosis, Rieger's anomaly, Prader Willi syndrome, facial hemiatrophy and neurofibromatosis. This paper describes a patient followed for 18 years who had bilateral congenital ectropion uveae, bilateral ptosis, asthma and late onset of a dental defect.     

CONGENITAL ECTROPION UVEAE AND GLAUCOMA

Congenital ectropion uveae is a rare condition which may be present in one or both eyes. If the patient is followed glaucoma will always be found to be present. Associated features which have been described are ptosis, Rieger's anomaly, Prader Willi syndrome, facial hemiatrophy and neurofibromatosis. This paper describes a patient followed for 18 years who had bilateral congenital ectropion uveae, bilateral ptosis, asthma and late onset of a dental defect.     

Persistent hyperplastic primary vitreous. A clinicopathologic study of 62 cases and review of the literature

This is a clinicopathologic study of 62 cases of persistent hyperplastic primary vitreous (PHPV). The cases were divided into two main groups. Group 1 consisted of 55 unilateral cases not associated with any systemic abnormalities, including 36 eyes (58%) which were considered “pure cases” (Group 1A) and 19 (31%) which disclosed other ocular abnormalities in addition to PHPV (Group 1B). Group 2 consisted of 7 (11%) bilateral cases of PHPV accompanied by other ocular and systemic malformations. The most common presenting clinical signs are leukocoria, microphthalmia and cataract. The main histopathologic features of this condition are outlined, including those responsible for the disastrous to the eye (retinal detachment, glaucoma, phthisis bulbi). Several clinical entities, usually mistaken for or associated with PHPV, such as retinoblastoma, congenital cataract, retinal dysplasia, trisomy 13 syndrome, and falciform retinal folds are discussed briefly.     

Congenital total ectropion of upper lid

Two cases with congenital total ectropion of the upper eyelids are reported (1 bilateral and 1 unilateral). There were no associated ocular or general abnormalities nor any apparent causes. One child was born normally, the other by cesarean section. The disease is not caused by difficult labor through natural birth passages. The condition is usually cured by conservative therapy. If surgery is carried out, it should be performed as early as possible in order to rule out secondary infections, amblyopia, epidermization of the conjunctiva, etc.     

Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter

PURPOSE: To present a case of congenital glaucoma with an unbalanced translocation trisomy 8q22-qter/monosomy 9p23-pter, resulting in trisomy of the GLC1D locus. To perform a literature review of chromosomal abnormalities associated with glaucoma. METHOD: A case report of a family with balanced translocation without glaucoma and unbalanced translocation with congenital glaucoma. PubMed and OMIM databases were searched for reports of chromosomal abnormalities and glaucoma. RESULTS: Other case reports of congenital glaucoma with chromosomal abnormalities in this region were identified. A review of cytogenetics in southeastern Australia found nine cases involving the loss of 9p23 and 10 cases involving mosaicism for trisomy 8, but none had congenital glaucoma. A review of the literature identified reports of glaucoma and chromosomal abnormalities in regions with glaucoma loci mapped by conventional linkage analysis. These include the loci GLC1B, GLC1C, GLC1D, GLC1F, GPDS1, and RIEG2. CONCLUSION: The study of patients with glaucoma and chromosomal abnormalities may help to identify new glaucoma genes. Ophthalmologists can assist with this by requesting cytogenetic studies on congenital and developmental glaucoma cases and interacting with ophthalmic genetics researchers.     

Chromosomal abnormalities and glaucoma: a case of congenital glaucoma associated with 9p deletion syndrome

PURPOSE: To present a case of congenital glaucoma associated with 9p22.3-pter deletion as the sole identified genetic abnormality. To compile cases of chromosome 9p deletion associated with congenital glaucoma from the literature. METHOD: A review of case notes of the proband. Literature search using PubMed and Medline to identify other cases of chromosome 9p deletion associated with congenital glaucoma. RESULTS: A total of four cases of chromosome 9p deletion associated with congenital glaucoma have now been reported in the literature. CONCLUSION: A female infant with a chromosome 9p22.3-pter deletion presented with congenital glaucoma in addition to systemic features typical of the 9p deletion syndrome. Congenital glaucoma is not an invariant feature of 9p deletion syndrome, nonetheless, 9p24 may localise a gene implicated in the condition.     

Primary congenital glaucoma and erupted teeth (natal teeth) in the newborn: a report of two cases

Primary congenital glaucoma may be associated with several ocular, adnexal, and systemic abnormalities. Presented are two cases of primary congenital glaucoma that were associated with natal teeth; ie, the teeth were present in the oral cavity at the time of birth. To the knowledge of the author, this is the first report on the association of primary congenital glaucoma and natal teeth.     

Congenital and infantile cataract in the United Kingdom: underlying or associated factors. British Congenital Cataract Interest Group

PURPOSE: Prevention of visual impairment and blindness in childhood due to congenital and infantile cataract is an important international goal. Preventive strategies require information about etiology that is currently unavailable for many regions of the world. From a national epidemiologic study, the underlying or associated factors in newly diagnosed cases of congenital or infantile cataract in the United Kingdom are reported, and the implications for future etiological research are discussed. METHODS: All children with congenital or infantile cataract newly diagnosed during 1 year in the United Kingdom were ascertained independently through two national active surveillance schemes comprising ophthalmologists and pediatricians, respectively. Detailed information about cases, including disease causes, was collected from reporting clinicians using standard questionnaires. RESULTS: Of 243 children with newly diagnosed congenital or infantile cataract, 160 (66%) had bilateral disease. Isolated cataract was more common in bilateral than unilateral cases (61% versus 47%, P = 0.05) as was cataract associated with a systemic disorder (25% versus 6%, P < 0.001). Conversely, cataract with associated ocular anomalies was more common in unilateral than bilateral cases (47% versus 14%, P < 0.001). No underlying or associated risk factors for cataract could be identified in 92% of unilateral and 38% of bilateral cases, although putative prenatal and perinatal risk factors were reported in a proportion of these idiopathic cases. Hereditary disease was associated with 56% of bilateral but only 6% of unilateral cases. Prenatal infections and other systemic factors were reported in only 6% of bilateral and 2% of unilateral cases. CONCLUSIONS: Given the high proportion of idiopathic congenital and infantile cataract, the scope for primary prevention in the United Kingdom is currently limited. There is a need for further etiological research, to examine the roles of environmental and genetic risk factors for idiopathic cataract.     

Congenital glaucoma before and after the introduction of microsurgery. Results of "macrosurgery" 1943-1963 and of microsurgery (trabeculotomy/ectomy) 1970-1974

Primary trabeculotomy (in five eyes "converted" to trabeculectomy) normalized the tension in all 21 eyes with congenital glaucoma without associated diseases, (mean postoperative tension 12 mmHg, range 8-20 mm). Re-operation was needed for only one eye. Preoperatively glaucomatous cupping was present in 18 of these 21 eyes. Ten of the 18 eyes with glaucomatous cupping were operated upon before the age of 6 months two before 11 months and the appearance of the disc was normalized in these 12 eyes. Repeated trabeculotomy, -ectomy was without success in three of five operated eyes in patients with congenital glaucoma of several years duration previously treated by "macrosurgery". In patients with associated diseases normal tension was achieved by means of trabeculotomy/-ectomy in two eyes in two Sturge-Weber children with unilateral congenital glaucoma and in both eyes in a child with a chromosomal defect with bilateral congenital glaucoma. Repeated trabeculotomy/ectomy was on the other hand without success in a child with bilateral aniridia with congenital glaucoma and hydrocephalus. Presupposing acute or subacute microsurgery, the present operative results of congenital glaucoma without diseases are far better than those obtained in previous decades by "macrosurgery" which, despite frequent re-operations, effected normalization of the tension in only 61% of the eyes (11 of 26 patients (42%) with bilateral congenital glaucoma without associated diseases and treated by macrosurgery in previous decades were under the Care of the Blind).     

The association of unilateral congenital glaucoma and congenital lower lid entropion: causal or casual?

This case documents unilateral congenital glaucoma associated with congenital lower lid entropion. A 2-year-old female infant was referred for evaluation and treatment of right-side buphthalmos caused by congenital glaucoma associated with bilateral congenital lower lid entropion that was prominent on the right side and present at birth. Examination disclosed a lower eyelid entropion of the right side that was treated surgically by reinserting the disinserted retractor aponeurosis to anterior inferior tarsal border. After three weeks, the patient was successfully treated with primary combined trabeculotomy-trabeculectomy for congenital glaucoma. The entropion of the left lower lid was asymptomatic and did not require any surgery. Buphthalmos caused by congenital glaucoma may be associated with congenital lower lid entropion and the association may be causal or coincidental.     

Hypoplastic inferior rectus muscle in association with accessory extraocular muscle and globe retraction.

Ocular motility problems related to congenital abnormalities of extraocular muscles are rare conditions. Such congenital abnormalities may present in a spectrum from accessory additional rectus muscles to absence of extraocular muscles. Absence of one or more extraocular muscles is a rare condition usually seen in association with craniofacial syndromes and only rarely in isolation. None of the cases with the absence of an extraocular muscle were reported to be in association with an accessory extraocular muscle or paradoxical contraction of an extraocular muscle. We present a case with bilateral hypoplasia of the inferior rectus muscle with an accessory extraocular muscle in association with globe retraction and lambda-pattern exodeviation.     

Iridoschisis and glaucoma

Three patients with unilateral iridoschisis and glaucoma (1 with bilateral open-angle glaucoma, 1 with unilateral glaucoma) were observed for 3 to 15 years. In none of these patients did iridoschisis progress and a good control of the glaucoma was achieved. The mechanism of this rare condition is yet not clear.     

Goniodysgenesis associated with Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome is a constellation of clinical findings characterized by mental and motor retardation, broad thumbs and broad first toes, typical facies. Ocular and adnexal abnormalities are quite common and include antimongoloid slant of the palpebral fissures, epicanthal folds, congenital obstruction of the lacrimal excretory system, ptosis, strabismus, congenital cataract and congenital glaucoma. The authors describe the case of a 1-year-old male with the Rubinstein-Taybi syndrome associated with unilateral congenital glaucoma. The case emphasizes the importance of detailed complete ocular examinations in patients with Rubinstein-Taybi syndrome, and also highlights the occurrence of ocular abnormalities rarely associated with this disease.     

Unilateral Autosomal Recessive Anophthalmia in a Patient with Cystic Craniopharyngioma

Anophthalmia is a rare ocular malformation. It is a genetically determined disorder and is typically associated with syndromes. However, sporadic nonsyndromic familial as well as non-familial cases of anophthalmia have also been reported. Non-syndromic familial cases are usually bilateral and have been attributed to autosomal recessive, autosomal dominant, and X-linked inheritance patterns. The authors hereby report a rare case of autosomal recessive unilateral anophthalmia in a patient with no other associated congenital anomaly. Patient was operated for craniopharyngioma. The clinical, radiological and intraoperative findings are discussed.