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Answers: 2008 Series -  February 26, 2008 Lecture 45 of 53  NEXT»

To see views enlarged, click on the individual pictures...

LEFundusA
Fig. 1 LE - fundus photo


Fig. 2 autofluorescence

OCT answer
Fig. 3 OCT

Photos courtesy of: Carol L. Shields, M.D.
Used with permission. 

A 56-year-old woman was referred with a diagnosis of optic disc melanocytoma in the left eye.  There is a family history of skin melanoma in sister, prostate cancer in brother and brain tumor in grandmother. In both eyes, visual acuity is 6/6 and anterior segment examination is normal. Fundus is within normal limits in right eye. Left eye fundus is shown above [Fig 1] along with autofluorescence [Fig 2] and OCT pictures [Fig 3].

1.  The most likely diagnosis is:    
 

d -- congenital hypertrophy of retinal pigment epithelium (CHRPE)

This is a case of congenital hypertrophy of retinal pigment epithelium which is a flat, darkly pigmented lesion, mostly found in periphery, less than 1% of them present at posterior pole. Key diagnostic points are the lacunae at the periphery of the lesion and a halo around it. 
Optic disc melanocytoma is an elevated lesion, found on or adjacent to the optic disc.

 

2.  Any other investigations required for the diagnosis?  
 

c -- none of the above

Clinical examination is a cliché in the diagnosis. Autofluorescence shows nearly zero autofluorescence in the lesion and slight hyperautofluorescence at the site of lacunae. OCT shows thickening of RPE layer and thinning of photoreceptors and sensory retina.

 

3.  Treatment for this condition is:
 

a -- observation and annual follow up

CHRPE grow at a very slow rate and thus, need an annual follow up. Rarely, RPE adenoma might develop from it.

 

References:

  1. Shields CL, Shields JA, Demirci H, et al. Melanocytoma of optic nerve: Review. Surv Ophthalmol 2006: 51; 93- 104
  2. Shields CL, Materin MA, Shields JA. Review of Optical Coherence Tomography for intra-ocular tumors. Curr Opin Ophthalmol 2005; 16: 141-154.
  3. Shields CL, Materin MA, Walker C, et al. Photoreceptor loss overlying Congenital Hypertrophy of Retinal Pigment Epithelium by OCT.  Ophthalmology 2006; 113: 661-665.

 


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