Familial spastic paraplegia and maculopathy with juxtafoveolar retinal telangiectasis and subretinal neovascularization.
OBJECTIVE
To describe a previously unreported condition involving familial spastic paraplegia and a peculiar type of maculopathy.


METHODS
Two pairs of siblings were studied. All four cases underwent serial clinical examinations, fundus photography, and fluorescein angiography. Two siblings had extensive investigations.


RESULTS
Characteristics of the four cases include spastic paraplegia diagnosed in the first decade of life and visual loss at about age 9 due to a maculopathy with an abnormal vascular complex. In the early stages, parafoveal dilatation of the capillary network was noted. The later stages were characterized by cystic macular degeneration, and seven of eight eyes developed fibrovascular scars with retinochoroidal anastomoses, pigment migration, and atrophic changes. In two siblings, electro-oculographic findings were subnormal, whereas results of electroretinography, magnetic resonance imaging of the brain and spinal cord, and metabolic and karyotype studies were normal. These siblings were an Indonesian girl and boy; the other siblings were white males. There was no consanguinity of the parents and family history was unremarkable.


CONCLUSIONS
This study suggests that the two pairs of siblings have an identical familial and probably recessive disorder with neurodegenerative changes that have caused paraplegia and a peculiar maculopathy associated with anomalous retinal vascular complexes, retinochoroidal anastomoses, and subretinal neovascularization.
Leys
A
A
Department of Ophthalmology, University Hospital, Leuven, Belgium.
Gilbert
H D
HD
Van De Sompel
W
W
Verougstraete
C
C
Devriendt
K
K
Lagae
L
L
Gass
J D
JD
D000293:Adolescent; D001164:Arteriovenous Fistula / Q000209:etiology / Q000473:pathology; D002648:Child; D002829:Choroid / Q000098:blood supply; D004585:Electrooculography; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005584:Fovea Centralis / Q000098:blood supply* / Q000473:pathology; D005654:Fundus Oculi; D006801:Humans; D008266:Macula Lutea / Q000473:pathology*; D008297:Male; D009679:Nuclear Family; D010375:Pedigree; D015861:Retinal Neovascularization / Q000150:complications* / Q000473:pathology; D012171:Retinal Vessels / Q000002:abnormalities / Q000473:pathology*; D015419:Spastic Paraplegia, Hereditary / Q000150:complications* / Q000473:pathology; D013684:Telangiectasis / Q000150:complications* / Q000473:pathology; D014792:Visual Acuity