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The Retinoblastoma Gene01:20

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Tapetal-like reflex in X-linked RPGR-associated retinopathy.

Srikanta Kumar Padhy1, Brijesh Takkar2, Sujoy Mukherjee1

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Ophthalmic Genetics
|June 30, 2025
PubMed
Summary

Tapetal-like reflex (TLR) in RPGR-associated retinopathy indicates a cone-rod dystrophy phenotype with later onset and central vision loss. Absence of TLR suggests a rod-cone dystrophy pattern with earlier onset and peripheral degeneration.

Keywords:
RPGR- associated retinopathyTapetal- like reflexmacular atrophymale

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Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Diseases

Background:

  • Retinitis pigmentosa GTPase regulator (RPGR)-associated retinopathy is a significant cause of inherited retinal dystrophies in males.
  • Clinical presentations of RPGR-associated retinopathy can vary, impacting diagnosis and prognosis.
  • The presence or absence of a tapetal-like reflex (TLR) has been anecdotally associated with different phenotypes.

Purpose of the Study:

  • To investigate the clinical, imaging, electrophysiological, and genetic characteristics of male patients with RPGR-associated retinopathy exhibiting tapetal-like reflex (TLR) versus those without (non-TLR).
  • To correlate the presence of TLR with specific disease phenotypes and genetic variants within RPGR-associated retinopathy.

Main Methods:

  • Retrospective observational study of 9 Indian males from 7 families with genetically confirmed RPGR variants.
  • Patients categorized into TLR (n=6) and non-TLR (n=3) groups based on fundus appearance.
  • Multimodal imaging (fundus photography, FAF, OCT) and full-field ERG analyzed; genetic testing for RPGR variants.

Main Results:

  • TLR group: later onset (35 yrs), worse BCVA (0.66 LogMAR), higher myopia (-5.50 D), central macular atrophy with hyper-FAF, complete outer retinal atrophy (cRORA), preserved scotopic but extinguished photopic ERG.
  • Non-TLR group: earlier onset (23 yrs), better BCVA (0.26 LogMAR), lower myopia (-1.00 D), peripheral degeneration, bull's eye maculopathy, incomplete outer retinal atrophy (iRORA), severely reduced scotopic and extinguished photopic ERG.
  • All patients had hemizygous RPGR mutations in exon 15 (predominantly frameshift/stop-gain).

Conclusions:

  • TLR in RPGR-associated retinopathy correlates with a cone-rod dystrophy-like phenotype (later onset, central atrophy, photopic dysfunction).
  • Absence of TLR associates with a rod-cone dystrophy-like phenotype (earlier onset, peripheral degeneration).
  • Recognizing TLR aids clinical classification, early diagnosis, and prognosis in RPGR-related retinal diseases.