MCVD is an autosomal recessive disorder characterised by nonsyndromic severe myopia and early-onset cataract. In some cases, patients have also been reported with retinal detachment, lens subluxation or lens coloboma.
Diseases of the eye and adnexa
Disorders of ocular muscles, binocular movement, accommodation and refraction
3q28
MCVD is an autosomal recessive disorder characterised by nonsyndromic severe myopia and early-onset cataract. In some cases, patients have also been reported with retinal detachment, lens subluxation or lens coloboma.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 614292.1 | United Arab Emirates | Female | Yes | Yes | Abnormality iris morphology; Iridodonesi... Abnormality iris morphology; Iridodonesis; Lens subluxation; Chorioretinal atrophy  | NM_018192.4:c.1543_1546del | Homozygous | Autosomal, Recessive | Khan. 2019 | Patient has a simila... |
| 614292.2.1 | Saudi Arabia | Female | Yes | Yes | Severely reduced visual acuity; Juvenile... Severely reduced visual acuity; Juvenile cataract; Ectopia lentis | NM_018192.4:c.297del | Homozygous | Autosomal, Recessive | Patel et al. 2017; Khan et al. 2015 | Proband |
| 614292.2.2 | Saudi Arabia | Female | Yes | Yes | Juvenile cataract; Ectopia lentis; Mildl... Juvenile cataract; Ectopia lentis; Mildly reduced visual acuity | NM_018192.4:c.297del | Homozygous | Autosomal, Recessive | Patel et al. 2017; Khan et al. 2015 | Sister of 614292.2.1 |
| 614292.2.3 | Saudi Arabia | Female | Yes | Yes | Juvenile cataract; Ectopia lentis; Sever... Juvenile cataract; Ectopia lentis; Severely reduced visual acuity | NM_018192.4:c.297del | Homozygous | Autosomal, Recessive | Patel et al. 2017; Khan et al. 2015 | Sister of 614292.2.1 |
| 614292.2.4 | Saudi Arabia | Female | Yes | Yes | Juvenile cataract; Ectopia lentis; Mildl... Juvenile cataract; Ectopia lentis; Mildly reduced visual acuity; Esotropia | NM_018192.4:c.297del | Homozygous | Autosomal, Recessive | Patel et al. 2017; Khan et al. 2015 | Sister of 614292.2.1 |
| 614292.2.G.1 | Saudi Arabia | Yes | Yes | | NM_018192.4:c.297del | Homozygous | Autosomal, Recessive | Khan et al. 2015 | Unaffected father, m... |