Abnormality of retinal pigmentation
|
phenotype |
|
Finding
|
215
|
5
|
0.100 |
None |
|
0 |
|
|
|
Absent retinal pigment epithelium
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Age related macular degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
685
|
663
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Amaurosis congenita of Leber, type 1
|
disease |
Eye Diseases
|
Disease or Syndrome
|
81
|
60
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Ataxia, Spinocerebellar
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
156
|
4
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Atrophic macular change
|
phenotype |
|
Finding
|
24
|
1
|
0.100 |
None |
|
0 |
|
|
|
Atrophoderma maculatum
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2015 |
Central areolar choroidal sclerosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
10
|
5
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Choriocapillaris atrophy
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Choriocarcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
431
|
2
|
0.020 |
None |
1.000 |
2 |
|
1991 |
1996 |
Color vision defect
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
94
|
4
|
0.100 |
None |
|
0 |
|
|
|
Cone dysfunction syndrome
|
disease |
|
Disease or Syndrome
|
25
|
2
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cone Dystrophy
|
disease |
Eye Diseases
|
Disease or Syndrome
|
48
|
31
|
0.100 |
None |
0.900 |
10 |
|
1999 |
2019 |
CONE DYSTROPHY 3 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
3
|
6
|
0.720 |
None |
1.000 |
9 |
6
|
1998 |
2011 |
Cone-Rod Dystrophies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
86
|
53
|
0.200 |
None |
1.000 |
10 |
2
|
1999 |
2019 |
Cone-Rod Dystrophy 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
254
|
51
|
0.370 |
None |
1.000 |
8 |
2
|
2001 |
2019 |
Diabetic Retinopathy
|
disease |
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
645
|
213
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
None |
|
0 |
|
|
|
Disorder of macula of retina
|
group |
Eye Diseases
|
Disease or Syndrome
|
49
|
24
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Drusen
|
disease |
|
Disease or Syndrome
|
57
|
18
|
0.100 |
None |
|
0 |
|
|
|
Dyschromatopsia
|
disease |
|
Disease or Syndrome
|
19
|
1
|
0.100 |
None |
|
0 |
|
|
|
Electroretinogram abnormal
|
phenotype |
|
Finding
|
158
|
10
|
0.100 |
None |
|
0 |
|
|
|
Enhanced S-Cone Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
14
|
21
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Foveal photoreceptor outer segment loss on macular OCT
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|