Retinal dysplasia


Retinal dysplasia

Description, Causes and Risk Factors:

ICD-10-DC: Q14.1 (congenital).

An overgrowth of glial tissue compensating for aplasia of sensory elements.

Retinal dysplasia consists of an abnormal proliferation of developing retina, producing tubular structures with a rosette-like appearance in cross section. It appears to be associated with a single pathogenetic basis: the separation of the retina during a critical stage of its differentiation from its underlying pigment epithelium.

The pathogenesis of retinal dysplasia include the following:

    Resulting from hyperplastic extension of the retina into "abnormal" sites away from its pigment epithelium.

  • Secondary to detachment of the retina from the pigment epithelium.

  • Occurring in an otherwise normal location over areas devoid of pigment epithelium.

  • In situ dysplastic process with no evidence that the dysplastic retina has ever been separated from its underlying epithelium.

The underlying feature of each of these processes is the absence of a presumed normal histogenetic control by the pigment epithelium on the developing retina. Dysplastic changes appear to be intermediate between a receptor that has developed normally and one that has followed uncontrolled, neoplastic growth. Muller fibers contribute to dysplastic rosette formation but not retinoblastoma rosette formation.

Retinal dysplasia may also be associated with congenital anomalies (13%), or with chromosomal abnormalities like Trisomy 13, or systemic findings such as Norrie's disease (x-linked recessive).

The disease is very rare and affects 1 in millions.

Symptoms:

    Patchy abnormal discoloration.

  • Folds in the retina.

  • Ridges in the retina.

  • Detachment of the retina, complete or focal.

  • Flashes.

  • Floaters.

  • Vision loss.

  • Systemic hypertension.

Diagnosis:

Theultrasonographic and tomographic findings are helpfulin the diagnosis of suspected retinal dysplasia. A thoroughphysical examination is needed to rule out systemic abnormalities associated with the disease. Early screening willbe of help in genetic counseling of the parents.

The diagnosis may be confirmed by Funduscopic appearance& Fluorescein angiographic appearance.

Treatment:

There is no known cure. If the disease produces no exudation or hemorrhage, in most cases, they may be simply observed. Some dysplasias pulsate due to the arterial pulse pressure, and this feature may represent an increased risk of bleeding in the near future. If exudation or hemorrhage threaten or affect central vision, several management options exist depending on the clinical situation; laser photocoagulation, Nd:YAG laser, pneumatic displacement of hemorrhage, and vitrectomy with surgical evacuation of blood have all been employed in the treatment of retinal dysplasia. Risks and benefits positive, must be carefully discussed with your Eye specialist.

NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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