Macular halos associated with Niemann-Pick type B disease

Area of Science:

• Ophthalmology
• Medical Genetics
• Biochemistry

Background:

• Niemann-Pick type B disease is a rare, inherited lysosomal storage disorder.
• Macular halos are a distinctive ocular finding characterized by elevated, white, ring-shaped lesions around the fovea.
• Previous literature has occasionally suggested a link between macular halos and Niemann-Pick type B disease.

Observation:

• This report details the third documented case of macular halos associated with Niemann-Pick type B disease.
• The study includes color fundus photography and fluorescein angiography to illustrate the characteristic macular findings.
• The presence of macular halos was observed in the proposita, but not in other examined family members.

Findings:

• Systemic diagnosis of Niemann-Pick type B disease was confirmed through bone marrow biopsy and enzyme assays.
• Sphingomyelinase enzyme assays identified 10 carriers among the 13 family members examined.
• The proposita was the sole individual exhibiting the pathognomonic macular halos.

Implications:

• Macular halos may serve as a crucial, early diagnostic sign for Niemann-Pick type B disease.
• Increased awareness of this ophthalmic manifestation can facilitate earlier diagnosis and management of the genetic disorder.
• This finding highlights the importance of ophthalmological examination in the diagnostic workup of suspected lysosomal storage diseases.