Bothnia Retinal Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
1
|
2
|
0.900 |
limited |
1.000 |
2 |
2
|
1999 |
2001 |
Newfoundland Rod-Cone Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
1
|
|
0.510 |
limited |
1.000 |
1 |
|
2015 |
2015 |
Yellow/white lesions of the retina
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Lenticonus
|
disease |
|
Congenital Abnormality
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Absent foveal reflex
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Progressive visual field defects
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Fundus Albipunctatus
|
disease |
Eye Diseases
|
Congenital Abnormality
|
9
|
21
|
0.730 |
None |
1.000 |
7 |
2
|
1997 |
2015 |
Pigmentary retinal dystrophy
|
disease |
Eye Diseases
|
Disease or Syndrome
|
9
|
4
|
0.030 |
None |
1.000 |
3 |
1
|
2001 |
2015 |
Eye Diseases, Hereditary
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
9
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Abnormal light- and dark-adapted electroretinogram
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Retinitis punctata albescens (disorder)
|
disease |
Eye Diseases
|
Disease or Syndrome
|
10
|
10
|
0.700 |
None |
1.000 |
12 |
5
|
1999 |
2017 |
Usher syndrome, type 1A
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
14
|
2
|
0.010 |
None |
< 0.001 |
1 |
|
1990 |
1990 |
Abnormality of fundus pigmentation
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Retinal pigment epithelial mottling
|
phenotype |
|
Finding
|
16
|
2
|
0.100 |
None |
|
0 |
|
|
|
Peripheral visual field loss
|
phenotype |
|
Finding
|
19
|
4
|
0.100 |
None |
|
0 |
|
|
|
Retinitis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
20
|
1
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2005 |
Scotoma
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Usher Syndrome, Type I
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
23
|
168
|
0.010 |
None |
< 0.001 |
1 |
|
1990 |
1990 |
Atrophic macular change
|
phenotype |
|
Finding
|
24
|
1
|
0.100 |
None |
|
0 |
|
|
|
Alpers Syndrome (disorder)
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
28
|
128
|
0.100 |
None |
|
0 |
1
|
|
|
Atrophoderma maculatum
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|
Attenuation of retinal blood vessels
|
phenotype |
|
Finding
|
41
|
2
|
0.100 |
None |
|
0 |
|
|
|
Scotoma, Central
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
43
|
2
|
0.100 |
None |
|
0 |
|
|
|
Cone Dystrophy
|
disease |
Eye Diseases
|
Disease or Syndrome
|
48
|
31
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Macular Edema, Cystoid
|
disease |
Eye Diseases
|
Disease or Syndrome
|
49
|
3
|
0.100 |
None |
|
0 |
|
|
|