Degeneration and Plasticity of the Optic Pathway in Alström Syndrome

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Fig 1.
A, Gray matter voxel-based morphometry analysis: areas of significant difference (TFCE-corrected P < .05) between subjects with AS and healthy controls within the occipital pole (5386 voxels; peak, −16, −68, 6). Analysis was conducted with age as a covariate. B and C, Tract-based spatial statistics analysis: areas of significant difference (TFCE-corrected P < .05) between subjects with AS and healthy controls. Analyses were conducted with age as a covariate and showed diffuse decrease of fractional anisotropy (peaks, 33, −65, −2 and 28, −60, −1) and diffuse increase of radial diffusivity (peaks, 31, −65, 11 and −25, −68, 0). D, Resting-state fMRI analysis: areas of significant differences (TFCE-corrected P < .05) between subjects with AS and healthy controls within the medial visual networks (2189 voxels; peak, 21, −51, −3). Analysis was conducted with age as a covariate.

Epidemiologic, genetic, and clinical findings of patients with AS in the present study

No.	Genotype (Axon)	Vision Deficit^{^a}	Hearing Deficit^{^b}	Overweight^{^c}	Hypertension^{^d}	Heart Ejection Fraction^{^e}	Dyslipidemia	DM2^{^f}	Psychiatric Disorders
1	Heterozygosis 8 and 16	+	−	++	−	Normal	−	+	−
2	Heterozygosis 8 and 16	+	+	++	−	Normal	−	+	−
3	Heterozygosis 8 and un	+	+	+	−	Normal	−	+	−
4	Heterozygosis 8 and 10	+	+	+	−	Normal	−	+	−
5	Heterozygosis 8 and un	++	+	+	+	Normal	+	++	−
6	Heterozygosis 10 and 12	+	+	−	−	Normal	−	+	−
7	Heterozygosis 8 and 16	+	+	+	+	25%^{^g}	+	++	−
8	Heterozygosis 8 and 8	++	+	++	+	47%	−	++	Depression
9	Heterozygosis 8 and 8	++	+	+	−	Normal	+	+	Depression
10	Homozygosis 10 and 10	++	+	+	+	Normal	+	−	Anxiety, depression, bulimia^{^h}
11	Homozygosis 16 and un	++	+	+	+	Normal	+	−	Paranoid personality disorder^ⁱ
12	Homozygosis 10	++	+	−	+	Normal	+	++	−

Note:—un indicates unknown mutation; DM2, diabetes mellitus type 2.
↵a Vision Deficit: + indicates severe vision deficit (<1/20); ++, blindness.
↵b Hearing Deficit: − indicates normal hearing; +, hearing deficit >20 dB.
↵c Overweight: − indicates normal weight (body mass index, 18.5–25); +, overweight (body mass index, 25–30); ++, obesity (body mass index, >30).
↵d Hypertension: − indicates normotensive; +, under antihypertensive treatment.
↵e Heart Ejection Fraction: normal value, >55%.
↵f DM2: ++ indicates diabetes mellitus type 2; +, insulin resistance or hyperinsulinemia or impaired glucose tolerance; –, no disorders in glucidic metabolism.
↵g Dilated cardiomyopathy.
↵h Under therapy with valproic acid, bromazepam, and olanzapine.
↵i Under therapy with valproic acid, quetiapine, risperidone, and paroxetine.