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Posterior microphthalmos pigmentary retinopathy syndrome

Niranjan Pehere1, Subhadra Jalali, Himanshu Deshmukh

  • 1Jasti V Ramanamma Children's Eye Care Center, LV Prasad Eye Institute, Kallam Anji Campus, Banjara Hills, Hyderabad, India.

Documenta Ophthalmologica. Advances in Ophthalmology
|March 19, 2011
PubMed

Insights

Posterior Microphthalmos Pigmentary Retinopathy Syndrome (PMPRS) affects siblings with a potential autosomal recessive inheritance. This rare condition involves posterior microphthalmos and retinitis pigmentosa, with one sibling also exhibiting foveoschisis.

Area of Science:

  • Ophthalmology
  • Medical Genetics

Background:

  • Posterior microphthalmos (PM) is a rare condition characterized by a predominantly affected posterior eye segment with normal anterior segment dimensions.
  • Posterior Microphthalmos Pigmentary Retinopathy Syndrome (PMPRS) is an infrequent condition requiring further genetic elucidation.

Observation:

  • Two siblings presented with PMPRS, suggesting a possible autosomal recessive inheritance pattern.
  • The elder sibling (13 years old) exhibited PM and retinitis pigmentosa (RP).
  • The younger sibling (7 years old) presented with PM, RP, and foveoschisis, indicating variable phenotypes.

Findings:

  • The study highlights a potential autosomal recessive mode of inheritance for PMPRS.
  • Variable expressivity of the syndrome was observed, with differing clinical manifestations between affected siblings.
  • The co-occurrence of PM, RP, and foveoschisis in one sibling points to complex genetic interactions.

Implications:

  • Increased awareness of posterior microphthalmos and its associated posterior segment pathologies is crucial for early diagnosis and management.
  • Further genetic research is warranted to identify the specific genes responsible for PMPRS and understand its pathogenesis.
  • Recognizing the variable phenotype is important for accurate genetic counseling and predicting disease progression in affected families.

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