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Bilateral macular coloboma in a patient with retinitis pigmentosa like changes
Author(s) -
KABANAROU SA,
KOUROUPAKI A,
PORTALIOU DM,
FERETIS E,
XIROU T
Publication year - 2012
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.1755-3768.2012.s090.x
Subject(s) - ophthalmology , medicine , retinitis pigmentosa , coloboma , electroretinography , retinoschisis , photopic vision , retina , retinal , retinal pigment epithelium , retinal detachment , biology , neuroscience
Abstract Purpose To report a case with bilateral macular coloboma and RP (retinitis pigmentosa) like changes. Methods A 46‐year‐old female presented with macular coloboma in both eyes. There was a history of strabismic amblyopia in her right eye but no other contributory medical or family history.Best corrected Snellen visual acuity (BCVA) was measured and full ophthalmic examination was performed. Visual field testing, optical coherence tomography (OCT) and international‐standard electrophysiological (ISCEV) evaluation, including pattern and full‐field electroretinography (PERG and FFERG), were also performed. Results BCVA was hand movements in the right eye and 0.5 in her left eye. Fundoscopy revealed an oval sharply‐ demarcated defect at the macula with bare sclera at its base and pigment clumping, mainly in the right eye, resembling macular coloboma. There were also severe retinal vessel attenuation and scattered retinal pigmentary changes, occasionally resembling bone spicule RPE changes, in the retinal periphery in both eyes. Optic discs were pale bilaterally. Visual field testing demonstrated bilateral scotomas. OCT revealed a crater‐like depression at the macula with atrophic neurosensory retina and absence of retinal pigment epithelium (RPE) and choroid, more extensive in her right eye, where scleral excavation was also documented. Pattern ERG as an indication of macular function was extinguished in the right eye and severely affected in her left eye. Full field ERG was extinguished bilaterally for both scotopic and photopic responses. Conclusion Bilateral macular coloboma associated with RP like changes, an abnormal electroretinography and no relevant family history, may be indicative of a developmental retinal abnormality.