Retinal pathology of a patient with Goldmann-Favre syndrome.
OBJECTIVE
To define the retinal pathology in an 88-year-old male affected with Goldmann-Favre syndrome with a 2 bp 5' A>C splice site mutation in the NR2E3 gene.


METHODS
Retinal tissue from the macula and periphery was processed for immunohistochemistry. Perimacular retina was processed for transmission electron microscopy. Cryosections were studied by indirect immunofluorescence, using well-characterized antibodies to rhodopsin, cone cytoplasm, and cone opsins. The affected donor eye was compared to a postmortem matched normal eye.


RESULTS
The retina was highly disorganized without laminar organization. The RPE was discontinuous in some perimacular regions. Large (>1 mm) spherical electrondense melanosomes were observed in the RPE and choroid by TEM. Rods were virtually absent in the affected retina. Cones were present in the macula, but were mostly absent from the retinal periphery. In addition, cone rosettes were observed in the perimacular area. Both red/green and blue cone opsins were distributed along the entire cellular expanse of the cone photoreceptors in the affected eye, but were restricted to the cone outer segments in the control retina.


CONCLUSIONS
The histological data obtained from the retina of an elderly male patient with Goldmann-Favre syndrome showed an absence of rods and abnormal distribution of red/green and blue cone opsins.
Bonilha
Vera L
VL
The Cole Eye Institute, The Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA. bonilhav@ccf.org
Fishman
Gerald A
GA
Rayborn
Mary E
ME
Hollyfield
Joe G
JG
D000368:Aged; D000369:Aged, 80 and over; D019393:Arrestin / Q000378:metabolism; D019084:Fluorescent Antibody Technique, Indirect; D006801:Humans; D008297:Male; D009755:Night Blindness / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D055355:Opsins / Q000378:metabolism; D057093:Orphan Nuclear Receptors / Q000235:genetics; D012160:Retina / Q000378:metabolism / Q000473:pathology*; D012162:Retinal Degeneration / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D055213:Retinal Pigment Epithelium / Q000648:ultrastructure; D012243:Rhodopsin / Q000378:metabolism; D013577:Syndrome
D019393:Arrestin; C403073:NR2E3 protein, human; D055355:Opsins; D057093:Orphan Nuclear Receptors; D012243:Rhodopsin