Evanescent white linear flecks and posterior microphthalmos: new features of a recently established disease.
BACKGROUND
Posterior microphthalmos is a rare autosomal recessive condition with normal anterior segment and small posterior segment resulting in axial hyperopia and retinal folding.


METHODS
The proband from a consanguineous Turkish family was clinically investigated at 5 months of age and followed for the next 8 years. At five months of age, refraction revealed a severe hyperopia of + 10 diopters in both eyes (OU) with a mean axial length of 16.5 mm. Fundus examination showed a dystrophic maculo-papillar bundle. Multiple whitish deep intraretinal linear lesions sparing the macula were present in the mid-periphery with no preferential orientation.


RESULTS
By 8 years of age, visual acuity was 20/25 in the right eye (OD) and 20/30 in the left eye (OS) with S + 14 OU. The whitish linear lesions had disappeared and were replaced by retinal pigment epithelium alterations. Optical coherence tomography (OCT) revealed a thickened retina with normal appearance at the site of the linear lesions.


CONCLUSIONS
This is the first report of long-term follow-up and OCT findings in this rare ocular developmental abnormality.
Tran
H V
HV
Oculogenetic Unit, Jules Gonin Eye Hospital, Lausanne, Switzerland.
Borruat
F-X
FX
Reymond-Gruber
S
S
Schorderet
D
D
Munier
F
F
D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D008297:Male; D008850:Microphthalmos / Q000145:classification* / Q000150:complications / Q000175:diagnosis*; D012164:Retinal Diseases / Q000145:classification / Q000151:congenital* / Q000175:diagnosis*; D014786:Vision Disorders / Q000145:classification / Q000151:congenital* / Q000175:diagnosis*