13.7.8  Natural History and Prognosis

(Signs, Symptoms, Timing, etc.)

Male patients with ND usually present with bilateral leukocoria in early infancy or at birth due to primary retinal dysplasia. Secondary cataract and glaucoma are associated with ND with eventual microphthalmos and bilateral blindness. One-third of patients manifest some sensorineural hearing loss, and mental retardation is variable.

13.7.9  Diagnosis and Diagnostic Aids

The differential diagnosis of ND should include retinoblastoma,­ FEVR, ROP, Coats’ disease, retinal hamartomas, and persistent hyperplastic primary vitreous. Examination under anesthesia with intraoperative ultrasonography may be necessary to differentiate between the disorders. Enucleation with histopathology may be necessary in patients with sporadic ND in order to rule out retinoblastoma.

13.7.10  Treatment

Surgical treatment of the retinal detachment of patients with ND has not been successful [94]. Given the retinal immaturity and poor vascularization, even anatomically successful retinal reattachment may not be functionally significant.

13.7.11  Complications and Associations

Patients with ND are bilaterally blind. Hearing loss can typically occur in the second to fifth decades of life. Mental retardation and psychotic behavior in late childhood are variable features of this disorder [85].

13.7.12  Social and Family Impact

Genetic counseling is very important since all females within the kindred of an affected male are at risk of being carriers and having an affected male offspring. With the identification of the ND gene, the specific

proposed mutation within a family can be used to determine carrier status and permit an intrauterine diagnosis.

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