Sija Sudha1, Deepa Molathe Gopalan2
BACKGROUND
Neurocutaneous syndromes (NCS) are a group of genetic disorders that produce
a variety of developmental abnormalities of the eye. Ophthalmic manifestations
usually appear early in life and progress with time. The study was conducted to
know the prevalence of ocular manifestations in neurocutaneous syndromes with
emphasis on neurofibromatosis.
METHODS
This study was conducted in ophthalmology department at a tertiary care hospital
during a period of 2 years among 30 patients. All phakomatoses referred from
other specialty departments for ophthalmological evaluation and cases diagnosed
in ophthalmology department during routine evaluation were included in the study.
RESULTS
Neurofibromatosis type 1 (NF-1) accounted for most of (66.67 %) the cases
followed by Sturge Weber syndrome (SWS) (20 %). Majority (55 %) of NF-1 and
83.33 % of SWS and all patients of other phakomatoses were in the age group <
30 yrs. 55 % of NF-1 patients were males. 65 % of NF-1 patients gave positive
family history. Lisch nodules, the most common ocular finding in NF-1 were
present in 85 % of patients and of these 82 % were bilateral. Medullated nerve
fibre was seen in 10 % of patients. Glaucoma was seen in 66.67 % of Sturge
Weber syndrome patients. Conjunctional telangiectasia was seen in 16.67 % of
Sturge Weber syndrome patients. Seizures and radiological features were seen in
most patients with Sturge Weber syndrome. Megalocornea with normal intraocular
pressure (IOP) was seen in both of our patients with posterior fossa
malformations, haemangioma, arterial anomalies, coarctation of the aorta/cardiac
defects, and eye abnormalities (PHACES syndrome). Eyelid coloboma, ectropion
uvea, hyperchromia iridis & myopia was seen in one patient with PHACES
syndrome. A case of tuberous sclerosis had many systemic features like calcified
subependymal nodules, renal angiomyolipomas, skin features and the only ocular
finding was hypopigmented iris spots.
CONCLUSIONS
Ophthalmologist has a role in early recognition of the neurocutaneous syndrome
from specific ocular features (like Lisch nodule in NF-1), reducing ocular morbidity
by timely treatment (of conditions like glaucoma) and prompt referral to concerned
speciality for management of systemic involvement.
