Sorsby's pseudo-inflammatory macular dystrophy: laser treatment

In 1949, Sorsby described a familial fundus disease with progressive visual loss and bilateral hemorrhages and exudates of the posterior pole. The dystrophy, whose inheritance was apparently autosomal dominant, was called pseudo-inflammatory macular dystrophy because of extensive macular lesions that could suggest a post-inflammatory change. The ophthalmoscopic signs include the presence of diffuse drusen-like deposits with extensive changes of retinal pigment epithelium and focal atrophy of the choriocapillaris, particularly in the posterior pole. Some eyes grow subretinal neovascularization, which appears associated to retinal edema, deep hemorrhages and hard exudates. These cases ultimately result in a disciform macular scar. Atrophy of peripheral fundus is typical of advanced stages. We present the case of three sisters whose fundus lesions resembled Sorsby's pseudo-inflammatory macular dystrophy. In two of them, where there was a great suspicion of macular subretinal neovascularization, the laser treatment seemed to positively condition the course of the disease. In our opinion, even though a generalized atrophy of the choroid and retina cannot probably be avoidable, laser treatment can delay the loss of central vision, by blocking the capillaries from leaking, thus preventing secondary destruction from bleeding and fibrosis.     

Bilateral serous detachment of neuroepithelium of the posterior pole disclosing acute leukemia

A 51 year-old woman presented with sudden loss of vision secondary to serous neuroretinal detachments of both maculas. Fluorescein angiography revealed multiple hyperfluorescent pin-point dots in the early phases. The areas of fluorescein hyperfluorescence became more diffuse as dye leaked into the subretinal space. The diagnostic of acute monoblastic leukemia was made. Following treatment, her vision improved. Fundus examination at that time showed resolution of the bilateral serous retinal detachment. She died one month after the onset of visual complaints and autopsy was refused. There have been 14 previous reports of acute leukemia with serous retinal detachment. In most cases, retinal detachment occurred as the presenting sign or during relapse of the systemic disease. It was often bilateral and located in the posterior pole. Histopathologic studies showed leukemic infiltration of the choroid with areas of degeneration and proliferation of the retinal pigment epithelium. Angiographic findings are similar to what is observed in choroidal ischemia. The relationships with macular serous retinal detachment and choriocapillaris occlusion are discussed.     

Dominant macular subretinal neovascularization with peripheral retinal degeneration

A previously undescribed dominant macular dystrophy was found in five individuals from a four-generation pedigree. According to family history, three additional individuals were similarly affected. The disease was characterized by loss of central vision from macular subretinal neovascularization in the third to fourth decade. Four of these individuals complained of nyctalopia beginning in childhood. All five were myopic. Funduscopic findings in the posterior pole included subretinal neovascular membranes and yellow punctate deposits appearing at the level of the retinal pigment epithelium (RPE). Mid-peripheral and equatorial retinal pigment clumping and pigment migration were also observed. Abnormalities of electrophysiologic testing were suggestive of an early retinal degeneration.     

Acute posterior multifocal placoid pigment epitheliopathy

The pathogenesis of acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is not fully understood. Some believe it to be a primary dysfunction of the retinal pigment epithelium while others assume that its development follows a choroidal vasculitis. It generally presents as a bilateral condition and shows no sex predilection. The visual prognosis is generally good, though severe and permanent visual loss occasionally occurs. The funduscopic presentation consists of multiple flat, yellow-white lesions of the posterior pole at the level of the retinal pigment epithelium. This paper discusses a case of APMPPE and reviews and summarizes the current literature on this disorder.     

Outer Retina Ischemic Infarction—A Newly Recognized Complication of Cataract Extraction and Closed Vitrectomy: Part 2. An Animal Model

Intraocular pressure was artificially elevated above systolic blood pressure in 40 owl monkey eyes. Diffuse retinal whitening of the posterior pole and subsequent retinal pigment epithelial disruption were produced in nine of ten eyes with high pressure for 90 minutes or longer, but also in a few eyes with high pressure for a shorter duration. Fluorescein angiography and histologic examination demonstrated damage of the photoreceptors and retinal pigment epithelium with sparing of the inner retinal layers. This animal model duplicates the acute visual loss due to outer retinal infarction that sometimes occurs after closed vitrectomy or after continuous external ocular compression in preparation for surgery.     

Long-term follow-up of dominant macular dystrophy with flecks (Stargardt).

We present a family with dominant macular dystrophy and flecks (Stargardt) which was followed for 20 years. Twenty-three subjects out of 48 members in 4 generations underwent fundoscopic examination. Nine asymptomatic patients had a few scattered, small, whitish, drusen-like changes in the posterior pole, and an additional patient had several clumps of increased pigmentation at the level of the retinal pigment epithelium in the macular region. Five patients had macular degeneration, with the onset of visual loss at between 24 and 30 years of age. The maculopathy started as fine, punctate, pigmentary changes, with transmission retinal pigment epithelial defects (as seen angiographically), or as flecks. The maculopathy progressed into a garland of perifoveal, subretinal flecks with small, central, areolar, chorioretinal atrophy. At the end-stage, there was a larger, central area of choroidal atrophy and a wider wreath of subretinal flecks. Visual acuity stabilized at the 20/200 level. Visual loss preceded clinically visible choroidal atrophy and was coincident with the accumulation of flecks in the foveal region.     

Pentosan polysulfate maculopathy

Pentosan polysulfate sodium (PPS), a semisynthetic sulfated polysaccharide, is the only FDA-approved oral therapy for interstitial cystitis. Recent studies have described a progressive, vision-threatening macular condition associated with long-term PPS use. We reviewed all publications concerning PPS maculopathy to consolidate known clinical features and to evaluate the strength of this association. Current literature supports a strong dose-dependent association between PPS exposure and a progressive maculopathy impacting the retinal pigment epithelium (RPE) and RPE-photoreceptor interface that may worsen even after drug cessation. Initial symptoms may include prolonged dark adaptation and difficulty reading with relative visual acuity preservation. Fundus examination often shows macular pigment clumps corresponding to lesions of focal RPE thickening. Fundus autofluorescence most clearly depicts the condition, with a distinctive pattern of hypo- and hyperautofluorescent spots in the posterior pole that sometimes extends to the retinal periphery. Many cases also show a characteristic peripapillary hypoautofluorescent halo. Near infrared reflectance may aid in early detection. RPE atrophy, cystoid macular edema, and macular neovascularization may also occur, potentially resulting in loss of central acuity. This newly described association implies significant public health risk. Ophthalmologists should screen PPS users with multimodal retinal imaging, and prescribers should minimize dose and duration of PPS use.     

A Case of Acute Posterior Multifocal Placoid Pigment Epitheliopathy Demonstrating Vogt-Koyanagi-Harada Disease-Like Optical Coherence Tomography Findings in the Acute Stage

Purpose

We report a case of acute posterior multifocal placoid pigment epitheliopathy (APMPPE), which was difficult to differentiate from posterior pole-type Vogt-Koyanagi-Harada (VKH) disease because the lesions were mainly located in the macula bilaterally.

Case Report

A 33-year-old man presented with rapid bilateral loss of vision. Fundoscopy revealed yellow-white subretinal lesions in the posterior pole of both eyes. Optical coherence tomography (OCT) revealed the presence of subretinal fluid with a subretinal septum. After initiation of systemic steroids, OCT revealed that the amount of subretinal fluid decreased immediately. However, vision loss was less responsive to the therapy, and OCT revealed partial reorganization of the inner segment/outer segment (IS/OS) line in the bilateral macular areas after therapy.

Discussion

In our case, the location of the macular lesions made it difficult to differentiate APMPPE from VKH disease by fluorescein angiography. OCT images showed VKH disease-like findings of serous retinal detachment with a subretinal septum. The outer nuclear layer disappeared and the IS/OS line in the affected area was disorganized in the acute stage of the disease. In this case, the rapid loss of vision was specific to the onset pattern of APMPPE, and the slow response to therapy was very different from the response typically observed in VKH disease. Thus, careful consideration of the clinical course is important for diagnosing APMPPE.Key Words: Acute posterior multifocal placoid pigment epitheliopathy, Pigment epitheliopathy, Optical coherence tomography, Vogt-Koyanagi-Harada disease     

Pigmented paravenous retinochorodial atrophy.

Three male patients had paravenous pigmented retinochoroidal atrophy. Extensive retinal function tests showed characteristic retinal pigment epithelial abnormalities on fluorescein angiography, loss of peripheral visual field, diminution of the electroretinographic b-wave, and elevated rod threshold on dark adaptometry. The disease appears to be more progressive than previously indicated, and in late stages, may cause legal blindness through involvement of the posterior pole. No treatment is known.     

Treatment of Cystoid Macular Edema Due to Acute Posterior Multifocal Placoid Pigment Epitheliopathy

Purpose: To report a case of unilateral late-presenting acute posterior multifocal placoid pigment epitheliopathy (APMPPE) with CME evaluated before and after administration of IVTA. Method: A 29-year-old male diagnosed as APMPPE with CME was treated with IVTA. Results: Fundus examination revealed CME and sequelae APMPPE lesions without involvement of posterior pole. FA and OCT findings were consistent with CME. After IVTA (4 mg/0.1 mL) administration; BCVA increased from 20/28 to 20/20, mean retinal thickness decreased in OCT, and mean sensitivity in microperimetry increased from 15.7 to 17.2 dB. Conclusion: In this case report, IVTA improved macular anatomy, visual acuity, and macular sensitivity.     

Limited macular translocation for the management of subfoveal retinal pigment epithelial loss after submacular surgery

PURPOSE: To report a case of subfoveal retinal pigment epithelial (retinal pigment epithelium) loss after submacular surgery managed successfully by limited macular translocation. METHODS: Case report. RESULTS: A 28-year-old woman presented with a visual acuity of 20/100 caused by subfoveal choroidal neovas-cularization secondary to ocular histoplasmosis syndrome. Submacular resection of the choroidal neovascularization was complicated by inadvertent retinal pigment epithelium loss from beneath the foveal center. She underwent limited macular translocation 5 days after the initial surgery and had successful displacement of the fovea to an area inferior to the retinal pigment epithelium defect. Her visual acuity was 20/60 4 months postoperatively. CONCLUSION: This report demonstrates the feasibility of using limited macular translocation for the management of eyes with central retinal pigment epithelium defect after submacular surgery and extends the clinical indications for limited macular translocation.     

Diabetic maculopathy. A critical review highlighting diffuse macular edema

Retinal ischemia and edema are the two major intraretinal components of diabetic maculopathy. Focal macular edema is caused by focal leakage from retinal microaneurysms and dilated capillary segments; diffuse edema is caused by leakage from diffusely dilated retinal capillaries throughout the posterior pole. Diffuse macular edema may be exacerbated by systemic factors such as cardiac or renal failure, and hypertension. It is postulated that dysfunction of the retinal pigment epithelial barrier and transport functions might contribute to the problem of diffuse macular edema. Newer techniques of laser grid photocoagulation for diffuse edema have been proposed. It is postulated that photocoagulative debridement of a disordered retinal pigment epithelium could be a mechanism of action of this treatment.     

Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation.

OBJECTIVE: To study the association of retinal disease and the syndrome of maternally inherited diabetes and deafness caused by an A to G mutation in the tRNA leucine gene at base pair 3243 (A3243G) of the mitochondrial genome. DESIGN: Observational study of a genetically defined subject group. PARTICIPANTS: Thirteen subjects with the mitochondrial DNA A3243G mutation from seven different pedigrees with maternally inherited diabetes and deafness. INTERVENTION: Assessment of visual symptoms and visual acuity, dilated indirect ophthalmoscopy, retinal photography, and retinal electrophysiology. MAIN OUTCOME MEASURES: Loss of vision, funduscopic evidence of pigmentary retinal disease or diabetic retinopathy, and electrophysiologic evidence of defective functioning of the retinal pigment epithelium/photoreceptor complex. RESULTS: Funduscopic examination revealed abnormalities of retinal pigmentation in ten subjects (77%). Defects included speckled and patchy hyperpigmentation at the posterior pole of the fundus, particularly in the macular area, and varying degrees of loss of retinal pigmentation. Three subjects (23%) had visual symptoms, which included night blindness, visual loss, and photophobia. Electrophysiologic studies revealed impaired electro-oculogram responses in four of nine subjects with defects of retinal pigmentation (44%), two of whom also had much reduced scotopic and, to a lesser extent, flicker electroretinogram b wave potentials. Two subjects had diabetic retinopathy, including one with retinal depigmentation and impaired electro-oculogram activity. Both subjects with diabetic retinopathy had unilateral reduced electroretinogram responses, especially oscillatory potentials. CONCLUSIONS: Abnormalities of retinal pigmentation are common in subjects with maternally inherited diabetes and deafness caused by the mitochondrial DNA A3243G mutation. Visual symptoms, in particular loss of visual acuity, appear to be infrequent. The combination of deficits in the electro-oculogram and scotopic and flicker electroretinograms suggests that the retinal dystrophy includes defective functioning of retinal pigment epithelial cells and of both rod and cone photoreceptors. The pigmentary retinopathy does not prevent diabetic retinopathy; a single subject had funduscopic and electrophysiologic evidence of both diseases. Current evidence suggests that the mitochondrial DNA A3243G mutation accounts for 0.5% to 2.8% of diabetes. Most ophthalmic and diabetic clinics are therefore likely to contain such patients, who may benefit from identification of the genetic defect causing their disease and from genetic counseling.     

Cortical Atrophy Predicts Visual Performance in Long-Term Central Retinal Disease; GCL,pRNFL and Cortical Thickness Are Key Biomarkers

PurposeThe aim of this study was to assess both retinal and cortical structure in a cohort of patients with long-term acquired central retinal disease in order to identify potential disease biomarkers and to explore the relationship between the anterior and posterior visual pathways.MethodsFourteen participants diagnosed with long-term central retinal disease underwent structural assessments of the retina using spectral-domain optical coherence tomography, including macular ganglion cell layer (GCL) and peripapillary retinal nerve fiber layer (pRNFL) thickness. Structural magnetic resonance imaging was used to measure visual cortex, including cortical volume of the entire occipital lobe and cortical thickness of the occipital pole and calcarine sulcus, representing the central and peripheral retina, respectively.ResultsMean thickness was significantly reduced in both the macular GCL and the inferior temporal pRNFL across patients. Cortical thickness was significantly reduced in both the occipital pole and calcarine sulcus, representing the central and peripheral retina, respectively. Disease duration significantly correlated with GCL thickness with a large effect size, whereas a medium effect size suggests the possibility that cortical thickness in the occipital pole may correlate with visual acuity.ConclusionsLong-term central retinal disease is associated with significant structural changes to both the retina and the brain. Exploratory analysis suggests that monitoring GCL thickness may be a sensitive biomarker of disease progression and reductions in visual cortical thickness may be associated with reduced visual acuity. Although this study is limited by its heterogeneous population, larger cohort studies would be needed to better establish some of the relationships detected between disease dependent structural properties of the anterior and posterior visual pathway given the effect sizes reported in our exploratory analysis.     

Acute posterior multifocal placoid pigment epitheliopathy complicated by central retinal vein occlusion.

A case of acute posterior multifocal placoid pigment epitheliopathy (APMPPE) complicated by a central retinal vein occlusion five weeks after presentation is described. After eight months' follow-up there was mild residual visual impairment, macular scarring, and angiographic changes. The association of these two conditions is discussed.     

Transpupillary Thermotherapy in the Treatment of Choroidal Metastasis from Breast Carcinoma

BACKGROUND: Most patients who develop metastatic carcinoma to the choroid are managed by local radiation or chemotherapy. Since transpupillary thermotherapy (TTT) is currently gaining attention as an optional treatment for choroidal melanomas and hemangiomas, we sought to determine whether TTT is suitable for treatment of solitary choroidal metastasis at the posterior pole. METHOD: We report on a patient with decreased vision due to a serous macular detachment in a eye with a solitary choroidal metastasis from breast carcinoma, who was managed by TTT. RESULTS: After two months of follow up, total re-absorption of the serous macular detachment was achieved and the patient recovered full visual acuity in the treated eye. The choroidal mass became atrophic and hyperpigmentation of the retinal pigment epithelium and retinal folds in the macular region were observed. After six months of TTT, the ocular picture remained unchanged. CONCLUSION: TTT can be considered an acceptable therapeutic option for solitary choroidal metastasis associated with serous retinal detachment.     

Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria.

The eyes of a 22-month-old girl with the cobalamin C complementation type of combined methylmalonic aciduria and homocystinuria were studied with light and electron microscopy. We observed vacuolization of the iris pigment epithelium, loss of photoreceptors in the central 3.3 mm of the macula, partial loss of the nerve fiber and ganglion cell layers between the fovea and optic disk, and partial optic atrophy. The sclera in the posterior pole was thickened with deposition of mucopolysaccharide. Electron microscopy showed inclusions containing fine granular material in conjunctival fibrocytes; corneal epithelium, keratocytes, and endothelial cells; iris pigment epithelium; ganglion cells; retinal pigment epithelium; and choroid and scleral fibrocytes. Enlarged mitochondria and clear vacuoles distended the corneal endothelial cells. We found evidence of possible lysosomal dysfunction and mucopolysaccharide storage, as well as a clinicopathologic correlation of the macular degeneration in this disease.     

Spontaneous rip of the retinal pigment epithelium with a macular hole in neovascular age-related macular degeneration

PURPOSE: To report a case of retinal pigment epithelial tear associated with a macular hole in a patient with neovascular age-related macular degeneration (AMD). DESIGN: Observational case report. METHODS: An 87-year-old woman with AMD-related fibrovascular pigment epithelial detachment associated with vision loss was followed with sequential fundus photography, fluorescein angiography, and optical coherence tomography for 8 months. RESULTS: The detachment developed into a retinal pigment epithelium tear with macular hole formation. The temporal evolution of the lesion and optical coherence tomography findings suggested that the retinal pigment epithelium tear led to stretching forces along the posterior surface of the neurosensory retina with secondary foveal dehiscence. CONCLUSION: Macular hole formation is one mechanism by which retinal pigment epithelium tears may cause vision loss in AMD.     

A clinicopathological study of ocular involvement in primary hyperoxaluria type I.

We performed a clinicopathological study on the eyes of a 3-year-old girl with primary hyperoxaluria type I. An examination one year before death disclosed a slightly diminished visual acuity in both eyes with black, geographic central macular, subretinal patches. Calcium oxalate was deposited predominantly in the retinal pigment epithelium of the posterior pole, where these cells were markedly hyperplastic and hypertrophied round foci of oxalate crystals. Oxalate crystals were exceedingly sparse in other ocular structures and when present were not associated with an apparent tissue reaction in these other locations. A collagenous layer was evident between parts of the retinal pigment epithelium and the neurosensory retina, which contained occasional perivascular clumps of melanin laden cells. The predominant deposition of oxalate in the retinal pigment epithelium, with the exuberant response of these cells around the crystals, gives a clue to the pathogenic mechanisms of primary hyperoxaluria.     

Acute macular pucker

PURPOSE: To describe the presenting features, histopathology, and surgical outcome in a group of patients with rapidly progressive macular pucker. DESIGN: Retrospective interventional noncomparative case series. PARTICIPANTS: Five patients. METHODS: Review of case notes and the existing literature. RESULTS: All five patients had rapidly progressive visual loss and metamorphopsia over 2 weeks to 3 months, secondary to macular pucker after retinal tears or detachment. Vitrectomy and epiretinal membrane removal was performed within 1 month of diagnosis. In the absence of complications, there was rapid recovery of the visual acuity with resolution of metamorphopsia within 6 weeks to 3 months. Surgical complications limited the visual outcome in two cases. Histopathologic examination of epiretinal membrane removed from two of the cases suggests that these tend to form tubuloacinar structures and contain more retinal pigment epithelium-derived cells than tissue excised from cases with idiopathic macular pucker. CONCLUSIONS: Patients with acute macular pucker have precipitous visual loss caused by epiretinal membrane formation after retinal tear or detachment. Early surgery in these patients results in rapid recovery of visual acuity and resolution of metamorphopsia. The clinical features and comparative immunohistochemistry suggest that acute macular pucker is a distinct clinicopathologic entity.