Familial exudative vitreoretinopathy in a premature child

Insights

Familial exudative vitreoretinopathy (FEVR) can mimic retinopathy of prematurity (ROP) in premature infants. Accurate diagnosis is crucial, as FEVR may recur even after initial treatment, highlighting the need for careful patient management.

Area of Science:

  • Ophthalmology
  • Genetics
  • Neonatology

Background:

  • Familial exudative vitreoretinopathy (FEVR) and retinopathy of prematurity (ROP) share overlapping clinical features.
  • Distinguishing FEVR from ROP in premature infants presents a diagnostic challenge.
  • FEVR is characterized by exudates and a tendency for recurrence, unlike ROP.

Observation:

  • A case report details a premature infant initially diagnosed with FEVR and treated with diode laser.
  • The patient was lost to follow-up and presented three years later with recurrent, bilateral vitreoretinopathy.

Findings:

  • FEVR is characterized by retinal exudates and a propensity for recurrence or reactivation, differentiating it from ROP.
  • The case highlights that FEVR can manifest or reactivate years after initial treatment and loss to follow-up.

Implications:

  • Accurate differentiation between FEVR and ROP is essential for long-term patient care and preventing vision loss.
  • This case emphasizes the need for vigilant monitoring and follow-up in infants with suspected or diagnosed vitreoretinopathies.
  • Understanding the distinct clinical behaviors of FEVR and ROP informs prognostic expectations and therapeutic decisions.

Related Concept Videos

Diabetic Retinopathy01:27

Diabetic Retinopathy

DefinitionDiabetic retinopathy is a microvascular complication of diabetes affecting the retinal blood vessels.Risk FactorsDiabetic retinopathy is present in almost all individuals with type 1 diabetes and more than 60% of those with type 2 diabetes after two decades of disease.The risk increases with poor glycemic control, hypertension, dyslipidemia, smoking, pregnancy, and puberty.Although cataracts and glaucoma are also more frequent in people with diabetes, retinopathy remains the leading...
66
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
3.7K
Photoreceptors and Visual Pathways01:22

Photoreceptors and Visual Pathways

At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
8.5K