Niemann-Pick disease type B with oculo-neural involvement

Niemann-Pick disease type B was diagnosed clinically and enzymatically in a 1-year-old Saudi boy presenting with hepatosplenomegaly, failure to thrive and foam cells in the bone marrow aspirate. Neurological examination and EEG were normal. Sphingomyelinase activity was deficient in leukocytes and cultured skin fibroblasts. Fundoscopy revealed "cherry red spots" of both maculas. By definition, patients with Niemann-Pick disease type B should have no cerebral involvement, and rare ocular involvement [the maculahalosyndrome], which has been described as a pathognomonic sign of this rare disease. For classification - and especially for genetic counseling - it seems important to include oculo-neural involvement in the diagnosis of Niemann-Pick disease type B

Ocular findings of multiple sulfatase deficiency [Austin's Disease]

Multiple Sulfatase Deficiency [MSD], or Austin's Disease, is an autosomal recessive disease of unknown etiology caused by deficiency of several sulatase enzymes. We describe a female patient with MSD. Age of onset was in the neonatal period. The patient presented with somatic and coarse facial features of mucopolysaccharidosis reminiscent of HurlerSyndrome. She had macrocephaly, hirsuitism, prominent gibbus, prognatism, scaphocephalic head, widened wrists, short stubby fingers, abdominal distention, mental retardation, dementia, proptosis, corneal cloudiness and optic disc pallor. Skeletal survey was consistent with MPS. Steroid sulfatase activity was normal. The ocular features of MSD are discussed

Cornelia De Lange Syndrome: a case report and review of ocular and systemic findings

Cornelia de Langes syndrome [CDLS] is a congenital disorder characterized by growth retardation, mental retardation, skeletal abnormalities, and a characteristic atypical facial appearance. We report case with CDLS and further confirm the relative frequency of the oculofacial and ophthalmological feature of brow hypertrichosis, synophrys, ptosis, long arcuate eyelashes, brachycephaly and anteverted nostrils. In 1933, Cornelia de Lange first described 2 infants with development delay, growth retardation, low birth weight, feeding difficulties, anomalies of the extremities, and a characteristic facies. Since then, over 300 additional cases have been reported. Occasionally, the ocular anomalies associated with this syndrome are described. We describe an additional case of Cornelia de Lange syndrome and confirm prior findings of the frequent ophthalmic features in this syndrome

Ocular findings in adults with mucopolysaccharidosis II-B [Hunter Syndrome, mild]

A 47 year-old man with the mild form of Hunter syndrome [Mucopolysaccharidosis II-B] did not have corneal clouding, He had optic nerve head swelling and a pigmentary retinopathy which had slowly progressed from a prior examination at age 26 years. Review of the ocular findings in 37 other patients with MPS II-A and II-B confirmed the absence of corneal clouding in all patients, including 5 other adults with MPS II-B age 19-32 years, and the presence of optic nerve head swelling and pigmentary retinopathy in some

Cataract as manifestation of Focal Dermal Hypoplasia Syndrome, Goltz Syndrome

Focal dermal hypoplasia is a rare ectomesodermal dysplasia syndrome characterized by cutaneous, skeletal, dental, ocular and soft tissue defects. The inheritance pattern is X-linked dominant mode with a high lethality in males. We had the opportunity to observe an additional case of this very unusual disease in a 9-year old Syrian girl. We report her as the seventh case in the ophthalmic literature and add cataract as a new manifestation of this disease