Tuesday, December 25, 2012

Distichiasis-lymphedema syndrome with optic disc pit

Distichiasis-lymphedema syndrome with optic disc pit

Leg Lymphedema

Jan-Feb 2011

Indian J Ophthalmol. 2011 Jan-Feb; 59(1): 71–72.

Dear Editor,
An eight-year old boy, first born to third degree consanguineous parents, presented with right leg swelling for three months, with gradual onset, which progressed up to knee. There was no history of fever, injury, abdominal pain or contact with tuberculosis. He was treated with anti-filarial drugs elsewhere. At two years of age, he had frequent episodes of redness and constant rubbing of eyes and was then diagnosed to have double-rowed eye lashes involving all four eyelids and the extra rows of lashes were cauterized and removed elsewhere. The boy still continued to be symptomatic. None of the other family members had similar complaints.
On examination, he had right lower limb edema, which was from the knee downward.  There were no bony deformities or vertebral anomalies. Systemic examination was normal. He had mild congestion of both eyes. His visual acuity was 20/20; N6 in both eyes, and had no refractory error. Slit-lamp examination revealed distichiasis.  focal area of loss of eyelashes and depigmentation of skin was noted in the left upper eyelid. Fundus examination revealed an optic disc pit in the left eye and the macula was normal
Blood parameters were normal. Night smears for microfilaria were negative. Ultrasonography (USG) abdomen, echocardiogram, magnetic resonance imaging (MRI) spine, and vascular Doppler studies of both limbs were normal. Isotope lymphoscintigraphy confirmed the lymphedema. The parents were also screened and found to be normal. A clinical diagnosis of distichiasis-lymphedema syndrome (DLS) was made. Conservative management for symptomatic distichiasis, with lubrication and epilation was carried out, advice for Amsler test at home periodically and stockings for lymphedema were given. The parents were genetically counseled for prevention of secondary complications such as, cellulitis, foot infections, and varicose veins.
Figure 1
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