Retinal dystrophy and macular coloboma

Abstract

Seven cases of retinal dystrophy associated with bilateral macular colobomata are presented. Two separate entities were found. The first is a congenital onset pigmentary retinopathy similar in electrophysiologic findings and symptoms to typical Leber's congenital amaurosis; the second appears to be a form of pregressive cone-rod dystrophy with pigmentary retinopathy. Review of the pertinant literature and clinical evidence suggest that both conditions are distinct entities inherited in the autosomal recessive manner.

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.…”

“…Moreover, the genetic transmission of Leber's congenital amaurosis commonly displays an autosomal recessive (AR) model inheritance, which is not the case in this family ( Figure 1); on the contrary, the heredofamilial transmission observed in our patients is typically pertinent to macular coloboma. 9,18,20 In the course of the differential diagnosis, other colobomata-simulating entities, such as central areolar choroidal dystrophy, cone degenerations, inverse RP, dominant foveal dystrophy, and atrophic macular lesion in the course of RP were excluded because they are not associated with manifest, sensory-defect congenital nystagmus. 14,17,18,20,21 Several cases of bilateral macular coloboma associated with different manifestations of peripheral chorioretinal inherited dystrophy have been previously reported.…”

“…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.…”

Distrofia retiniana com onda rápida escotópica (DRORE) associada à síndrome dos cabelos anágenos frouxos (SCAF). Parte I: Achados oftalmológicos

“…O termo coloboma macular também é usado de forma errônea para designar lesões maculares secundárias a infecção intra-uterina (toxoplasmose), não resultante do defeito do fechamento da fissura embrionária. Em alguns casos o estafiloma macular parece-se com o coloboma macular, e ambos os termos são usados como sinô-nimos (6,18) . Exames para lues e toxoplasmose (IgM) negativos, com ausência de exposição à toxoplasmose (IgG não reagente) na mãe dos pacientes afetados (caso II-19) e simetria das lesões maculares em ambos os olhos nas pacientes femininas afetadas (casos III-21 e III-23), descartam a possibilidade de que nessas pacientes o coloboma macular seja causada por infecções intra-uterinas (toxoplasmose ou lues).…”