Sphingolipidosis.

Granular white macular halo ,abnormal accumulation of  lipids within the retinal ganglion cells showing the  

( Cherry- red spot) sign  ,The appearance of the stored material was most like seen in Niemann-pick disease,

 also in  Tay-Sachs disease if  the patient was Jewish  ,and named Sandhoff's disease if the patient is not Jewish , also can be seen in   Faber's disease, and  Landings disease .

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Sever  hypoplasia of the optic disc is often associated with a visual defect

, Notice the  reduction in the optic disc diameter .

Ophthalmoscopic clues to its presence include reduction in the disc diameter .

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a-A congenital anomaly in the inferior part of the nerve head   , fibrous membrane extending into the vitreous and associated  with retinal  hole and retinal detachment. 

b- The same findings as in (a) plus associated  with epiretinal membrane at the macula. 

c-This young boy , 10 years old having  Rt. amblyopic eye , divergent squint , Note the same findings as in (a) , the fibrous membrane is larger. 

 Retinal detachment  is  an Expected complication  in all three pictures . 

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a

b

C

Dominant Optic Atrophy .

Patients with dominant optic atrophy have  the insidious onset of mildly progressive  loss of visual acuity , usually beginning before  10 years of age .

Visual loss is bilateral but may be  asymmetric , The characteristic field defect is a cecocentral scotoma.May simulate a bitemporal hemianopia,,   Dyschromatopsia is the characteristic color defect  in dominant optic disc atrophy .

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