Saemah Nuzhat Zafar, Ayesha Khan, Shehla Rubab.
Ocular manifestations of Mucopolysaccharidosis.
J Coll Physicians Surg Pak Jan ;18(11):730-1.

A study was carried out on a series of cases diagnosed on clinical grounds as having MPS in order to observe their ocular features. Ocular and systemic findings of all the patients were recorded. The patients included 3 (42.8%) females and 4 (57.2%) males, aged 4-15 years with a median age of 10 years. All patients presented with bilateral stromal corneal haze and decreased vision noticed first at ages between 1.5-4 years. Progressive multisystem involvement with complaints of photophobia, sleep apnoea and rhinorrhoea were common. Four (57.2 %) patients had other affected family members while 3 (42.8%) did not have any family history of the disease. Deterioration in visual acuity ranged from 8 cpcm recorded binocularly with Lea gratings to 6/15 with Lea numbers in the better eye. Intraocular pressure (IOP) was normal in 5 patients. One patient had glaucoma with buphthalmic left eye and a history of trabeculectomy in the normal-sized right eye. Pachymetry readings were not possible in the other patients because of cloudy cornea. Retinal view was hazy in all seven patients, therefore, no pigment retinopathy was appreciated in any of the cases, although decreased night vision was a presenting complaint in one patient. General and systemic physical examination showed coarse facial features with flared nostrils and enlarged tongue as a common finding in all cases. Umbilical hernia, claw-shaped hands, short neck, thoracolumbar scoliosis and dwarfism were noticed in 6 (85.7%) patients (Table I). The seventh one had no skeletal deformities apart from pes cavus. Hepatosplenomegaly was found in 2 (28.5%) patients out of 7. Six patients had normal intelligence while one female had subnormal intelligence.

PakMediNet -Pakistan's largest Database of Pakistani Medical Journals - http://www.pakmedinet.com