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Evanescent white linear flecks and posterior microphthalmos: new features of a recently established disease
H V Tran1, F-X Borruat, S Reymond-Gruber
1Oculogenetic Unit, Jules Gonin Eye Hospital, Lausanne, Switzerland.
Insights
Posterior microphthalmos, a rare genetic eye condition, involves a small posterior eye segment leading to severe hyperopia. Long-term follow-up revealed retinal changes and thickening on OCT scans.
Area of Science:
- Ophthalmology
- Genetics
- Developmental Biology
Background:
- Posterior microphthalmos is a rare autosomal recessive disorder characterized by a normal anterior eye segment and a small posterior segment.
- This condition leads to significant axial hyperopia and characteristic retinal folding.
Observation:
- A Turkish infant diagnosed with posterior microphthalmos presented with severe hyperopia (+10 diopters) and a short axial length (16.5 mm) at 5 months.
- Fundus examination revealed a dystrophic maculo-papillary bundle and multiple whitish intraretinal linear lesions in the mid-periphery.
Findings:
- Over 8 years, the patient's hyperopia increased to +14 diopters, with visual acuity improving to 20/25 and 20/30.
- The initial linear retinal lesions resolved, replaced by retinal pigment epithelium alterations, and optical coherence tomography (OCT) showed retinal thickening at these sites.
Implications:
- This case provides the first long-term follow-up and detailed OCT findings for posterior microphthalmos.
- Understanding the natural history and OCT characteristics is crucial for managing this rare ocular developmental abnormality.
Background:
Posterior microphthalmos is a rare autosomal recessive condition with normal anterior segment and small posterior segment resulting in axial hyperopia and retinal folding.
History And Signs:
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.
Therapy And Outcome:
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.
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