Bilateral Macular Coloboma Associated with Progressive Atrophy of the Peripheral Retina

Abstract

An 11-year-old girl with poor visual acuity since birth was found to have nearly complete defects of the retinochoroidal tissue in the central areas of both fundi and almost normal peripheral retinas. Her parents were first cousins. At age 24, the patient reported night blindness. An examination showed geographic atrophy of the peripheral retina and stationary macular lesions in both eyes. Her condition appeared to be a rare case of bilateral macular coloboma associated with progressive peripheral retinal atrophy.

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).…”

“…of the condition) among those patients with a hereditary or family origin, [1][2][3] and among those with other ocular or systemic abnormalities. [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.…”