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2017 ; 23
(1
): 29-32
Nephropedia Template TP
gab.com Text
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English Wikipedia
Optical coherence tomography findings and successful repair of retina detachment
in Knobloch syndrome
#MMPMID28924418
Ebrahimiadib N
; Modjtahedi BS
; Ferenchak K
; Papakostas TD
; Mantagos JS
; Vavvas DG
Digit J Ophthalmol
2017[]; 23
(1
): 29-32
PMID28924418
show ga
A 7-year-old Afghani girl was referred to the retina clinic of Massachusetts Eye
and Ear for a chronic-appearing, macula-off retinal detachment in the left eye.
On examination, best-corrected visual acuity was 20/400 in the right eye and
20/800 in the left eye. She had bilateral horizontal nystagmus. Ophthalmoscopy
revealed prominent choroidal vessels, chorioretinal atrophy in the macular area,
attenuated retinal vasculature, and pale optic discs bilaterally. Spectral domain
optical coherence tomography demonstrated atrophy of the choriocapillaris and the
retinal pigment epithelium, retinal thinning, and abnormal foveal contour. In the
right eye, findings were reminiscent of dome shape maculopathy with an adjacent
lesion suspicious for inactive choroidal neovascularization. A suspected
diagnosis of Knobloch syndrome was confirmed by genetic testing, which showed a
homozygous variant in exon 33 of the COL18A1 gene defined as c.3213dupC. She
underwent cryotherapy and scleral buckling surgery in the left eye and remained
attached bilaterally at 3 years' follow-up, with progressive myopia and
best-corrected visual acuity of 20/100 in the right eye and 20/125 in the left
eye.