A rare case of bilateral choroidal coloboma within deep posterior staphyloma associated with macular hole retinal detachment.

To report case of bilaterally symmetrical choroidal coloboma within posterior staphyloma with MHRD. This is a case report of a 50year old female presented with diminished vision in both eyes. On examination, she had Bilateral High Myopia with recent onset MHRD associated with symmetrically bilateral Choroidal Coloboma within posterior staphyloma and was operated for MHRD in left eye. Presence of choroidal coloboma within posterior staphyloma is rare and with coexisting macular hole makes pathophysiology of RD challenging to understand.

Choroidal melanocytosis evaluation with enhanced depth imaging optical coherence tomography.

OBJECTIVE: To assess eyes with unilateral choroidal melanocytosis using enhanced depth imaging (EDI) optical coherence tomography (OCT). DESIGN: Retrospective, observational case series. PARTICIPANTS: Fifteen patients with unilateral choroidal melanocytosis. METHODS: Each patient was evaluated with EDI-OCT, and comparison was made of involved versus uninvolved foveal retinal and choroidal layers. MAIN OUTCOME MEASURES: Enhanced depth imaging OCT features of choroidal melanocytosis. RESULTS: The mean patient age was 28 years (median, 23 years; range, 5-76 years). There were 9 male and 6 female patients. Best-corrected visual acuity ranged from 20/20 to 20/30. All patients had subfoveal involvement with choroidal melanocytosis. Associated features included dermal (n = 6), scleral (n = 9), iris (n = 3), and palate (n = 1) melanocytosis. Spectral domain EDI-OCT revealed normal inner retina (n = 15) and normal outer retina (n = 14). The only retinal abnormality was a defect in both the myoid zone and the ellipsoid junction (n = 1). The affected choroid showed smooth anterior contour (n = 15) and thinned or compressed choriocapillaris (n = 2), thinned (n = 3) or thickened (n = 3) medium vessels, and thinned large vessels (n = 2). The subfoveal choroid was a mean 23% thicker in the involved eye, with a mean thickness of 326.4 µm (median, 326 µm; range, 120-459 µm) compared with 264.4 µm (median, 260 µm; range, 94-462 µm) in the uninvolved eye (P = 0.15). The choroidal perivascular interstitial tissue was 51% thicker in the study eye, enwrapping and silhouetting the medium and large vessels (P = 0.01). The ratio between the perivascular stromal tissue and the subfoveal choroidal thickness was 66% in the study eye and 54% in the normal eye (P = 0.0001). Deep partial (n = 5) or complete (n = 2) tissue shadowing was noted. CONCLUSIONS: Enhanced depth imaging OCT revealed that choroidal melanocytosis shows increased subfoveal choroidal thickness with an apparent increase in the choroidal perivascular stromal tissue and minimal effect on the overlying retina.

Isolated choroidal melanocytosis: a distinct clinical entity?

PURPOSE: The objective was to describe a distinct, limited form of congenital ocular melanocytosis that involves the choroid only. METHODS: A retrospective descriptive case series study of 11 patients with similar appearing broad-based but entirely flat melanotic choroidal lesions was carried out. RESULTS: All 11 lesions were homogeneously dark brown in color with at least one striated margin. They were located in various regions of the fundus from the macula and juxtapapillary area to the periphery. They ranged in size from 6 to 23 mm in the largest basal diameter, but all 11 were completely flat. The youngest patient was only 2 months old when the lesion was first detected, but the oldest was 82 years old. None of the 7 lesions that were re-evaluated over a median follow-up of 4 years enlarged or changed appreciably otherwise. CONCLUSIONS: The choroidal lesions described in this report may be a distinct, limited form of congenital ocular melanocytosis. We refer to these lesions as "isolated choroidal melanocytosis." Lesions of this type may predispose affected patients to choroidal melanoma.

Aicardi syndrome.

Aicardi syndrome (AS) is characterized by a triad of callosal agenesis, infantile spasms and chorioretinal 'lacunae'. It occurs only in individuals with two X chromosomes and is not familial. The outcome of AS is severe, with a high early mortality, considerable morbidity and a generally poor developmental outcome. However, the spectrum of AS seems broader than previously defined with a small proportion of the affected girls only moderately or mildly retarded. Several novel and important features should be added to the classic triad. The brain malformation is complex with cortical migration abnormalities, often cystic formations and sometimes choroid plexus papillomas; the eye anomalies, often feature a coloboma in addition to the lacunae, and focal seizures rather than spasms, are common. AS has been reported in 2 boys, both with an XXY complement, supporting the hypothesis of an X-linked gene lethal early in pregnancy for male conceptuses. A locus at Xp22.3 has been suggested but has not been confirmed. Treatment is only symptomatic.

Intrauterine West Nile virus: ocular and systemic findings.

PURPOSE: To report the first documented case of intrauterine transmission of West Nile virus (WNV) with resulting congenital chorioretinal scarring and central nervous system malformation in a newborn. DESIGN: Case report. METHODS: Ophthalmic findings and laboratory data in an otherwise presumed healthy 2-day-old female are presented. The infant's mother developed paraplegia due to WNV during the second trimester of her pregnancy. The newborn's external and general physical examination were unremarkable. RESULTS: Ophthalmic examination disclosed marked chorioretinal changes, and magnetic resonance imaging of the brain demonstrated severe abnormalities. Serology for WNV was positive. Other causes of congenital chorioretinal changes were ruled out with the appropriate serology. CONCLUSIONS: Intrauterine transmission of WNV may result in significant ocular and neurologic morbidity. Titers for this important and emerging viral pathogen should be obtained when standard serologies are negative in an infant with congenital chorioretinal scarring.

Bietti's crystalline dystrophy.

This first report from India describes 5 cases of Bietti's crystalline dystrophy without corneal involvement.

[Chorioretinal lesions in deaf mutes]. / Leziuni corioretiniene la surdomuti.

The paper reports a study of 216 patients of special deaf-mute schools from Craiova. The exam of them showed us the presence of retinal degenerative lesions in 17 cases (7.8%). There was not a parallelism between deafness' degree and retinal lesions expanse. In point of clinical aspect, the retinal degenerative lesions were Sjögreen retinal lesions in 6 cases, colloidal Amalric-Bessou retinal lesions in 6 cases. In 2 cases lesions had a pseudoinflammatory aspect and another 2 cases were peripheral lesions like "salt and pepper's". Only one case had pigmentary osteoblastic mobilization. Deafness was associated with oligophrenia in 15 cases, with discreet manifestations of eredoataxia Friedreich in 5 cases, with epilepsy in 2 cases and with nanism in another 2 cases. It is necessary a complex oto-neuro-ophthalmological exploration of patients with deaf-muteness.

Congenital-onset central chorioretinal dystrophy associated with high myopia.

We describe six siblings of a 12-member sibship affected with a macular dystrophy that is congenital in onset and is associated with progressive myopia. The age of these siblings ranged from 7 months to 19 years. The presenting feature was visual impairment and the best corrected visual acuity ranged between 1/60 and 6/36. Myopia ranged from -3.00 dioptres in the youngest to -10.50 dioptres in the second-eldest member. The macular lesions in our patients are characterised by a well-defined area of atrophy of choriocapillaris and retinal pigment epithelium. These lesions progressed with age in both size and depth. The extent of choroidal involvement in the lesions varied from only loss of superficial vasculature to sparing of large choroidal vessels as confirmed by fundus fluorescein angiography. One patient also exhibited bilateral Duane's syndrome (type III) and right unilateral ptosis. To the best of our knowledge such a fully established macular lesion presenting at the age of 6 months and associated with progressive myopia has never been described in literature.

Manejo de desprendimiento de retina asociado a coloboma de coroides / Management of retinal detachment associated to choroidal coloboma

Se presenta el caso de una paciente con desprendimiento de retina asociado a coloboma de coroides el cual fue manejado con vitrectomía, separación de la hialoides posterior, intercambio líquido-aire, endodrenaje a través de lesiones en el área del coloboma y aplicación de endofotocoagulación. Se colocó además un cerclaje escleral reaplicándose la retina

Role of ocular involvement in the prediction of visual development and clinical prognosis in Aicardi syndrome.

AIMS/BACKGROUND: This study was undertaken to document visual function and acuity in patients with Aicardi syndrome, and to determine whether there is any relation between ocular features of the syndrome exhibited at birth and later visual function. METHODS: Fourteen patients with Aicardi syndrome, all examined and followed by the same ophthalmologist, were reviewed between 1975 and 1992 and their ocular characteristics and visual acuity described. It was hypothesised that larger lacunae may be associated with poorer clinical outcome and therefore the relation between these two variables was investigated. RESULTS: Visual acuity as documented by Snellen, Sheridan-Gardner, preferential looking, or pattern visual evoked potential tests was in the normal to low normal range in six eyes of four patients. Visual function correlated significantly with macular appearance. Good visual function was preserved if the fovea appeared normal on funduscopic examination and was uninvolved by lacunae. The size of the largest chorioretinal lacuna also correlated significantly with clinical outcome: patients with large lacunae were more likely to be immobile and to have no language skills. CONCLUSION: It was concluded that good visual function in patients with Aicardi syndrome may be anticipated if the fovea is normal. Although many patients have severe psychomotor retardation, the presence of predominantly small chorioretinal lacunae may indicate a better prognosis for mobility and language development.