Table 4. [Genes of Interest in the Differential Diagnosis of Stickler Syndrome]. - GeneReviews®

Gene(s)	Disorder	MOI	Clinical Features of Differential Diagnosis Disorder
ARR3 CPSF1 LRPAP1 P4HA2 PRIMPOL SCO2 SLC39A5 ZNF644	High-grade myopia (OMIM PS160700)	AD AR XL ¹	Refractive error ≥ −6 diopters
ATOH7	Nonsyndromic congenital retinal nonattachment (NCRNA) (OMIM 221900)	AR	Congenital insensitivity to light, massive retrolental mass, shallow anterior chamber, microphthalmia, & nystagmus in otherwise normal individuals
BMP4	BMP4-related disorder ²	AD	High myopia, congenital hypoplasia of the vitreous, retinal detachment, high-arched palate, retrognathia, sensorineural hearing loss
GZF1	GZF1-related disorder ²	AR	High myopia, retinal detachment, chorioretinal coloboma, hearing loss, joint laxity & dislocations, kyphoscoliosis, talipes
KCNJ13	Snowflake vitreoretinal degeneration (OMIM 193230)	AD	Cataract, fibrillar degeneration of the vitreous, & peripheral retinal abnormalities incl minute, shiny, crystalline-like deposits resembling snowflakes. Individuals show a low rate of retinal detachment.
LOXL3	LOXL3-related disorder ²	AR	Myopia, vitreous detachment, flat midface, cleft palate, micrognathia, mild conductive hearing loss, joint laxity
LRP2	LRP2-related disorder ² (See also Donnai-Barrow Syndrome.)	AR	Myopia, retinal detachment, abnormal vitreous, flat midface, retrognathia, joint pain
VCAN	VCAN-related vitreoretinopathy (incl Wagner syndrome & erosive vitreoretinopathy) (OMIM 143200)	AD	"Optically empty vitreous" on slit lamp exam & avascular vitreous strands & veils, myopia, presenile cataract, night blindness of variable degree assoc w/progressive chorioretinal atrophy, retinal traction & retinal detachment at advanced stages of the disease & ↓ visual acuity. 1st signs usually become apparent during early adolescence, but onset can be as early as age 2 yrs.

Gene(s)

Disorder

MOI

Clinical Features of Differential Diagnosis Disorder

ARR3
CPSF1
LRPAP1
P4HA2
PRIMPOL
SCO2
SLC39A5
ZNF644

High-grade myopia (OMIM PS160700)

AD
AR
XL ¹

Refractive error ≥ −6 diopters

ATOH7

Nonsyndromic congenital retinal nonattachment (NCRNA) (OMIM 221900)

Congenital insensitivity to light, massive retrolental mass, shallow anterior chamber, microphthalmia, & nystagmus in otherwise normal individuals

BMP4

BMP4-related disorder ²

High myopia, congenital hypoplasia of the vitreous, retinal detachment, high-arched palate, retrognathia, sensorineural hearing loss

GZF1

GZF1-related disorder ²

High myopia, retinal detachment, chorioretinal coloboma, hearing loss, joint laxity & dislocations, kyphoscoliosis, talipes

KCNJ13

Snowflake vitreoretinal degeneration (OMIM 193230)

Cataract, fibrillar degeneration of the vitreous, & peripheral retinal abnormalities incl minute, shiny, crystalline-like deposits resembling snowflakes. Individuals show a low rate of retinal detachment.

LOXL3

LOXL3-related disorder ²

Myopia, vitreous detachment, flat midface, cleft palate, micrognathia, mild conductive hearing loss, joint laxity

LRP2

LRP2-related disorder ² (See also Donnai-Barrow Syndrome.)

Myopia, retinal detachment, abnormal vitreous, flat midface, retrognathia, joint pain

VCAN

VCAN-related vitreoretinopathy (incl Wagner syndrome & erosive vitreoretinopathy)
(OMIM 143200)

"Optically empty vitreous" on slit lamp exam & avascular vitreous strands & veils, myopia, presenile cataract, night blindness of variable degree assoc w/progressive chorioretinal atrophy, retinal traction & retinal detachment at advanced stages of the disease & ↓ visual acuity. 1st signs usually become apparent during early adolescence, but onset can be as early as age 2 yrs.

From: Stickler Syndrome

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