Bilateral macular coloboma and pigmented paravenous retinochoroidal atrophy.

Abstract

A patient had bilateral macular coloboma with aggregations of pigment clumps located perivascularly, predominantly paravenously, and in other parts of the retina. The Toxoplasma IgG antibody was negative. The diagnosis of bilateral macular coloboma with pigmented paravenous retinochoroidal atrophy was made and seemed to be a developmental abnormality in origin.

Inflammatory pigmented paravenous retinochoroidal atrophy

“…Bilateral macular coloboma was reported by Chen et al in a 23-year-old woman. 12 Our case had bilateral cystoid macular edema which was one of the manifestations of active inflammation, and as far as we are aware this has not been previously reported. Fluorescein angiography gave a better definition of the lesions as well as cystoid macular edema.…”

“…1 Chen et al reported a case with bilateral macular coloboma, PPRA and negative laboratory examinations and he speculated that it was a developmental abnormality in nature. 12 Some reports suggest an inflammatory cause. Syphilitic aetiology has been suggested by Chi Hsin-Hsiang.…”

Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa

“…This inherited association may represent an AD clinical entity, hitherto reported only in nonfamilial sporadic cases in which the progressive tapeto-retinal dystrophy was not always a well-defined entity and, hence, heterogeneously named. 4,[9][10][11] On the other hand, a chance of co-occurrence cannot be ruled out. In fact, the variable RP expressivity, milder in the female than those observed in the males, without any significant clinical difference in the macular colobomatous lesions, could be similarly claimed to justify the different clinical pictures found in our patients.…”

“…14,17,18,20,21 Several cases of bilateral macular coloboma associated with different manifestations of peripheral chorioretinal inherited dystrophy have been previously reported. [4][5][6][7][8][9][10][11] Also, keratoconus has been described in patients with these ophthalmoscopic findings, but they were always nonfamilial cases. 4,5 The male members of this Caucasian family were affected by different typical RP phenotypes, 20,21 characterised by the presence of mid-peripheral bone spicules involving, respectively, the entire retina (classic RP; Case 1 and also the deceased father of the siblings) and only a retinal sector (sector RP; Case 3).…”

“…[4][5][6][7][8][9][10][11] Several reports have described patients with macular coloboma associated with peripheral retinal changes such as retinitis pigmentosa (RP), 4 retinal aplasia, 5 Leber's congenital amaurosis, 6,7 retinal dystrophy, 8,9 progressive atrophy of the peripheral retina, 10 or pigmented paravenous retinochoroidal atrophy. 11 The purpose of this paper is to present the clinical characteristics in three adult siblings who exhibited a bilateral macular coloboma (early-onset macular dystrophies/atrophic changes), associated with different RP phenotypes. We are unaware of previous reports of nonsporadic concomitance between macular coloboma and heterogeneous intrafamilial RP patterns and could find no reference to it in a computerised search utilising Medline.…”