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[Extensive yellowish fundus changes in a 6-year-old child].

S Gottwalt1, A Bergmann2, M Kautza-Lucht2

  • 1Universitätsaugenklinik, UKSH Campus Kiel, Arnold-Heller-Str. 3, 24105, Kiel, Deutschland. stefan.gottwalt@uksh.de.

Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft
|August 10, 2016
PubMed
Summary
This summary is machine-generated.

Molecular genetics diagnosed autosomal recessive bestrophinopathy (ARB) in a young girl with vision loss. Over 22 months, she showed slight visual recovery and reduced subretinal deposits.

Keywords:
Autosomal recessive bestrophinopathy (ARB)BEST1Intraretinal cystsMolecular geneticsYellowish subretinal deposits

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Area of Science:

  • Ophthalmology
  • Medical Genetics
  • Retinal Diseases

Background:

  • Autosomal recessive bestrophinopathy (ARB) is a rare inherited retinal disorder.
  • Early diagnosis is crucial for managing potential vision impairment.

Observation:

  • A 6-year-old girl presented with best corrected visual acuity of 0.6 in both eyes.
  • Clinical examination revealed yellowish subretinal lesions in the macula and around the vessel arcade.
  • Angiography showed no signs of vasculitis or abnormal vessels; fundus autofluorescence was marked, and SD-OCT revealed subretinal hyperreflective masses.

Findings:

  • Molecular genetics confirmed the diagnosis of autosomal recessive bestrophinopathy (ARB).
  • Over a 22-month follow-up, the patient exhibited a slight improvement in visual acuity.
  • A reduction in subretinal deposits was also observed during the follow-up period.

Implications:

  • This case highlights the utility of molecular genetics in diagnosing ARB.
  • The findings suggest a potential for visual recovery and reduction of lesions in ARB patients.
  • Further research into the natural history and treatment of ARB is warranted.