CRB1 maculopathy presenting as fenestrated sheen macular dystrophy with 15-year follow-up.

INTRODUCTION: We present two patients, the proband and the affected sibling, with biallelic CRB1 mutations leading to a macular dystrophy. CASE PRESENTATION: We present two patients, the proband and the affected sibling, with biallelic CRB1 mutations leading to a macular dystrophy. With 15 years of follow-up for the proband, we illustrate the natural history of CRB1 maculopathy based on clinical examination, multimodal imaging, and electrophysiology. In addition, we demonstrate the wide phenotypic spectrum of the condition with the affected sister harboring the same variants but with much milder phenotypic manifestations. CONCLUSION: In addition to a previously described pathogenic variant, Ile167_Gly169del, one pathogenic missense variant in CRB1, Lys801Ter, not previously associated with macular dystrophy, is reported here. While CRB1 mutations have been more commonly described in retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), we demonstrate that mutations in CRB1 can cause a maculopathy with initial features similar to fenestrated sheen macular dystrophy (FSMD) that later evolves into severe macular atrophy.

Henle Fiber Layer Hemorrhage in Macular Telangiectasia Type 2: Is Right Eye Dominance Coincidence or Consequence?

PURPOSE: To summarize all reported cases of Henle fiber layer (HFL) hemorrhage in the absence of subretinal neovascularization (SRNV) in patients with macular telangiectasia type 2 (MacTel2) and to propose a mechanism for the right-sided predominance of this unique presentation. DESIGN: Perspective. METHODS: Collection, review, and analysis of all cases in the literature and in the authors' databases of HFL hemorrhage in MacTel2, including analysis of baseline and follow-up multimodal retinal imaging findings of selected cases. Elucidation of the complex interplay of systemic venous pressure with the deep retinal capillary plexus and hypothesis regarding the right-sided predilection of HFL hemorrhage complicating MacTel2. RESULTS: Ten patients presented with a unilateral, characteristic radial macular hemorrhage within the HFL that affected only the right eye in all cases. Absence of SRNV was confirmed by fluorescein angiography and/or optical coherence tomography angiography. The hemorrhage resolved spontaneously in at least 7 of the 10 eyes. The HFL hemorrhage may plausibly be explained by dysfunction of the deep capillary plexus in MacTel2 combined with an acute rise in central venous pressure, for which the right side may be at increased risk. CONCLUSIONS: HFL hemorrhage can complicate MacTel2 in the absence of SRNV, and the radial pattern of blood affecting only the right eye is remarkable. The right eye predominance may be multifactorial in etiology. Related factors may include the right-sided predilection of MacTel2 and/or increased right-sided dural sinus drainage related to normal anatomical variation.

Torpedo maculopathy.

AIM: To describe the fluorescein angiographic, fundus autofluorescence and optical coherence tomography (OCT) findings in patients with a unique unilateral lesion of the temporal macula previously named torpedo maculopathy. METHOD: This study was a retrospective, observational case series. The medical records of 13 patients, age 1-68 years, seen between 1982 and 2009 were reviewed. Patients were evaluated for lesion features and course on follow-up, visual acuity, fluorescein angiography, visual-field defects, fundus autofluorescence and OCT findings. RESULTS: In all 13 patients, the lesion was flat, torpedo-shaped and solitary, and involved the temporal macula. The hypopigmented lesion had well-defined margins and a characteristic leading edge which pointed towards the centre of the macula. Fluorescein angiography revealed transmission hyperfluorescence of the lesion. OCT indicated a thin abnormal retinal pigment epithelium signal, and Humphrey Visual Field testing revealed a corresponding blind spot. Fundus autofluorescence performed on one patient was dark in the affected area. CONCLUSION: Torpedo maculopathy is an apparently congenital hypopigmented torpedo-shaped lesion of the temporal macula. Although it may result in a corresponding visual-field defect, these non-foveal lesions do not affect central visual acuity.