Table 1.

Demographics and organ phenotypes for BBS^−/− rhesus monkeys

Case	1	2	3	Heterozygotes
Sex	M	F	F
Age (years)	4	6	3.5 - 4*
Body wt (kg)	3.7	6.6	7.3
Retinal imaging In vivo	NA	Macular atrophy, vessel loss, severe thinning with loss of distinct layers, most severe centrally; diffuse high FAF with macular low FAF	Macular atrophy, thinned vessels, severe thinning with loss of distinct layers, most severe centrally; diffuse high FAF with macular low FAF	Normal (16-year-old male, 25-year-old male)
Retinal histopathology	Loss of photoreceptors, abnormal RPE, severe thinning, disorganized inner retina, abundant microglia and gliosis; most severe centrally	Loss of photoreceptors and RPE, severe thinning, disorganized inner retina, abundant microglia and gliosis; most severe centrally; more advanced than Case 1	NA (living case)	Normal (25-year-old male)
Kidney pathology	Histopathology: Interstitial fibrosis, dilated tubules, hyperplastic epithelium	Abdominal ultrasound: Deranged cortical architecture. Histopathology: Medullary cyst, severe cortical loss, nephron loss, fibrosis, cystic and atrophic tubules	Abdominal ultrasound: Diffusely increased echogenicity (nonspecific indicator of renal disease)	Abdominal ultrasound and histopathology: Renal cyst in 25-year-old male; normal structure in 10 other heterozygotes
Brain Wt (g)	82.9 vs 96.1±8.7 g for normal males**	75.5 vs 86.1α8.0 g for normal females**	NA	94.9±8.2 g for males (n=6) 83.6±4.9 g for females (n=6)
Brain volume by MRI (ml)	NA	NA	74.1 vs 105.6±10.1 for age-matched controls (n=18)	NA
Other Brain MRI findings	NA	NA	Enlarged right lateral ventricle	NA
Behavior	“Stargazing”, vision deficits; otherwise normal	Vision deficits; otherwise normal	Vision deficits; otherwise normal	No abnormalities noted
Gonads	Testes small and histologically immature	Normal ovaries by histopathology	Small uterus by ultrasound	No abnormalities noted; normal fertility

^*Period of observation reported here.

^**Normative data from Herndon et al., 1998

NA: Data not available.