Occurrence of full-thickness macular hole complicating Stargardt disease with ABCR mutation.
OBJECTIVE
To report an unusual episode of full-thickness macular hole complicating Stargardt disease with an ABCR mutation.


METHODS
Case report .


RESULTS
Fundus examination of a 20-year-old healthy man showed typical fundus manifestation with yellowish-round or fish-like flecks associated with vitreous macular adhesion and a round punched-out area in the right eye. Optical coherence tomography (OCT) illustrated a full-thickness macular hole. Molecular genetic examination of the ABCR gene showed two heterozygous missense mutations: R1108C (CGC-->TGC) in exon 22 and a splicing mutation IVS6--> 1GT - described in the literature in association with Stargardt disease.


CONCLUSIONS
Macular hole was once described in other inherited retinal degenerations (Best disease and Bietti crystal line retinopathy). The pathogenesis gives rise to a host of speculations: widespread alteration of the retinal pigment epithelium; inflammatory mechanisms; a minor trauma which might cause subretinal fibrosis. Surgical procedures were not performed on our patient after his ophthalmologic history and findings were considered.
Sodi
A
A
Department of Oto-Neuro-Ophthalmological Surgical Sciences, Eye Clinic, Firenze, Italy.
Bini
A
A
Passerini
I
I
Menchini
U
U
Torricelli
F
F
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D005451:Fluorescein Angiography; D006801:Humans; D008268:Macular Degeneration / Q000150:complications* / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D012167:Retinal Perforations / Q000175:diagnosis / Q000209:etiology*; D041623:Tomography, Optical Coherence
C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters