AI Article Synopsis

  • This case report discusses a pre-term infant diagnosed with severe bilateral retinal disease, highlighting the challenges in managing aggressive retinopathy of prematurity (ROP).
  • The infant underwent various assessments, including genetic testing that revealed a novel mutation in the LRP5 gene, which is linked to retinal issues.
  • The findings emphasize the need for careful evaluation of preterm infants with retinal problems, as genetic profiles can alter the understanding and treatment of these conditions, particularly distinguishing between ROP and familial exudative vitreoretinopathy (FEVR).

Article Abstract

Purpose: This case report details the diagnosis and management of a pre-term infant with aggressive bilateral retinal pathology.

Methods: A 4-week-old preterm baby girl, born at 28 weeks and 6 days to consanguineous parents, was referred for suspected aggressive posterior retinopathy of prematurity (ROP). She had a family history of bilateral retinal detachments and intellectual disability in an older sister. Clinical assessment included retinal examination, fluorescein angiography, optical coherence tomography, dual-energy X-ray absorptiometry (DEXA), and genetic testing. The genetic testing involved sequence analysis and copy number variation analysis of 25 genes related to vitreoretinopathy.

Results: Retinal examination and fluorescein angiography revealed extensive non-perfusion and telangiectatic vessels in both eyes, and a macula-involving tractional retinal detachment in the left eye. Despite treatment with intravitreal bevacizumab and laser photocoagulation, they progressed to total retinal detachment and no light perception in both eyes. Genetic testing revealed a pathogenic homozygous nonsense mutation in the LRP5 gene (c.3259C>T, p.(Gln1087*)), a mutation not previously reported in association with familial exudative vitreoretinopathy (FEVR). At 10 months of age, DEXA demonstrated normal bone density, diverging from the typical presentation of osteoporosis pseudoglioma syndrome associated with LRP5 mutations.

Conclusion: This case describes a novel mutation in a complex retinal disease and underscores the necessity of considering pre-term FEVR in the differential diagnosis of atypical or aggressive ROP in preterm infants. The overlap in clinical features between ROP and FEVR highlights the complexity of diagnosis and management and the importance of genetic testing in preterm infants with retinal vascular abnormalities.

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Source
http://dx.doi.org/10.1097/ICB.0000000000001652DOI Listing

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