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Year : 2017  |  Volume : 110  |  Issue : 4  |  Page : 118-126

Internal limiting membrane dsytrophy: a case series study of a rarely reported retinal dystrophy

Mansoura Ophthalmic Center, Faculty of Medicine, Mansoura University, Mansoura, Egypt

Correspondence Address:
Hanem M Kishk
Mansoura Ophthalmic Center, Faculty of Medicine, Mansoura University, Elgomhoria Street, Mansoura 35516
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ejos.ejos_43_17

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Purpose The purpose of this study was to describe the clinical features of 10 cases of a rarely reported internal limiting membrane dystrophy with glistening retinal reflex and peculiar fundus mottling. Patients and methods This is a retrospective review of 10 patients attending the outpatient clinic of Mansoura Ophthalmic Center in the period between 2000 and 2014. For all cases, measuring BCVA, fundus examination and fundus fluorescein angiography were done. Optical coherence tomography (OCT) was done for nine patients, with one patient missed (was not accessible for the investigation). Results The study included 10 unrelated patients − three female and seven male. The age ranged from 21 to 36 years (mean: 27±0.5 years). The mean visual acuity was 0.3±0.04. In all cases, fundus examination revealed the presence of a peculiar reddish mottling, with glistening retinal reflex and areas of epiretinal membranes and distortion of retinal blood vessels. Fundus fluorescein angiography revealed capillary dye leakage all over the retina with cystoid macular edema in five eyes. In one patient, abrupt cessation of retinal blood vessels was evident in the temporal retina. OCT revealed the presence of epiretinal membranes and schisis cavities in all retinal layers. Secondary choroidal neovascular membrane was evident in one eye. Conclusion Internal limiting membrane dystrophy is an extremely rare hereditary disorder that presents early in life (second-third decade) with early drop of vision. Clinically, it presents with glistening retinal surface, epimacular membranes and peculiar reddish mottling of the whole retina extending from the central retina to the far periphery. Fluorescein angiography shows capillary leakage all over the retina and cystoid macular edema. OCT shows schiscis cavities in all retinal layers. Some cases are complicated by choroidal neovascular membrane.

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