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Ocular manifestations in a patient with osteopetrosis
Author(s) -
KABANAROU S,
MOSCHONAS K,
PAPAPANOS P,
KOUROUPAKI A,
TSAKIRIS K,
XIROU T
Publication year - 2014
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2014.f020.x
Subject(s) - medicine , photopic vision , ophthalmology , electroretinography , pathognomonic , visual acuity , scotopic vision , visual field , optic nerve , visual field test , retinal , pathology , disease
Purpose To report a case of osteopetrosis, a rare genetic disorder, with ocular manifestations. Methods A 45 year old male was presented with a history of progressive visual loss. There was a past medical history of osteopetrosis. He underwent a full ophthalmic examination and best corrected visual acuity (BCVA) was recorded. Subsequently, visual field test, OCT and international‐standard electrophysiological (ISCEV) evaluation including pattern and full‐field electroretinography (PERG and FFERG), visual evoked potentials (PVEP), were performed. Genetic evaluation and counselling were scheduled. Results BCVA was 0.8 in the right and hand movements in the left eye. Anterior segment examination was normal. Fundoscopy revealed disc pallor in the right eye and optic disc atrophy in the left eye. There was a visual field defect in both eyes, mainly in the left one. OCT‐RNFL thickness was found borderline in the right and reduced in the left eye. The P100 component of PVEP demonstrated latency delay in the right eye and reduced amplitude in the left eye, indicative of optic nerve dysfunction. The N95 component of PERG was also affected. Full field ERG for both scotopic and photopic responses was borderline in the right eye and subnormal in the left eye, indicating mild retinal dysfunction. Genetic testing showed mutations in the CLCN7 gene. Conclusion In osteopetrosis there is a dysfunction in or lack of osteoclasts resulting in an increase in bone mass. Visual loss occurs because of optic nerve compression, and more rarely retinal dysfunction.