Table 1:
List of genes associated with typical and atypical foveal hypoplasia with genes reported in this study highlighted in bold
| Condition | Clinical Phenotype | Gene | Location | MIM Gene ID | Phenotype title | MIM phenotype ID | Inheritance |
|---|---|---|---|---|---|---|---|
| Oculocutaneous Albinism (OCA) | A clinically and genetically heterogenous disorder. Characterised by pigmentation defects of the hair, skin, and eyes. Foveal hypoplasia, chiasmal misrouting, infantile nystagmus, iris transillumination defects, fundus hypopigmentation. | TYR | 11q14.3 | 606933 | OCA1 | 203100, 606952 | AR |
| OCA2 | 15q12-q13 | 611409 | OCA2 | 203200 | AR | ||
| TYRP1 | 9p23 | 115501 | OCA3 | 203290 | AR | ||
| SLC45A2 | 5p13.2 | 606202 | OCA4 | 606574 | AR | ||
| SLC24A5 | 15q21.1 | 609802 | OCA6 | 113750 | AR | ||
| LRMDA (C10orf11) | 10q22.2-q22.3 | 614737 | OCA7 | 615179 | AR | ||
| Ocular Albinism (OA) | Shares the same clinical characteristics as OCA, however with pigmentation defects generally limited to the eyes | GPR143 | Xp22.2 | 300808 | OA1 | 300500 | XL |
| Hermansky-Pudlak Syndrome (HPS) | A syndromic form of albinism demonstrating the same clinical characteristics as OCA, in addition to blood platelet dysfunction with prolonged bleeding | HPS1 | 10q24.2 | 604982 | HPS1 | 203300 | AR |
| AP3B1 | 5q14.1 | 603401 | HPS2 | 608233 | AR | ||
| HPS3 | 3q24 | 606118 | HPS3 | 614072 | AR | ||
| HPS4 | 22q12.1 | 606682 | HPS4 | 614073 | AR | ||
| HPS5 | 11p15.1 | 607521 | HPS5 | 614074 | AR | ||
| HPS6 | 10q24.32 | 607522 | HPS6 | 614075 | AR | ||
| DTNBP1 | 6p22.3 | 607145 | HPS7 | 614076 | AR | ||
| BLOC1S3 | 19q13.32 | 609762 | HPS8 | 614077 | AR | ||
| BLOC1S6 | 15q21.1 | 604310 | HPS9 | 614171 | AR | ||
| AP3D1 | 19p13.3 | 607246 | HPS10 | 617050 | AR | ||
| BLOC1S5 | 6p24.3 | 607289 | HPS11 | 619172 | AR | ||
| Chediak-Higashi Syndrome (CHS) | A syndromic form of albinism demonstrating the same clinical characteristics of OCA, in addition to immune deficiency and ability to bruise and bleed easily | LYST | 1q42.3 | 606897 | CHS1 | 214500 | AR |
| FHONDA | Foveal hypoplasia, chiasmal misrouting, infantile nystagmus, and anterior segment dysgenesis in some cases (minor association) | SLC38A8 | 16q23.3 | 615585 | FHONDA, FVH2 | 609218 | AR |
| Aniridia | A pan-ocular condition which can cause corneal and lens abnormalities, iris abnormalities (aniridia), raised intraocular pressure, foveal hypoplasia, infantile nystagmus and optic nerve abnormalities | PAX6 | 11p13 | 607108 | AN1, FVH1 | 106210, 136520 | AD |
| FRMD7-related infantile nystagmus | Associated with idiopathic infantile nystagmus Most commonly associated with normal foveal morphology. Rare association with foveal hypoplasia. | FRMD7 | Xq26.2 | 300628 | NYS1 | 310700 | XL |
| AHR-related foveal hypoplasia and infantile nystagmus | A recently reported condition characterised by foveal hypoplasia and infantile nystagmus (only two cases reported in the literature, from the same family) | AHR | 7p21.1 | 600253 | * | - | AR |
| Achromatopsia | Characterised by cone photoreceptor dysfunction, reduced vision and infantile nystagmus. Known to be associated with atypical foveal hypoplasia and inner segment ellipsoid disruption | CNGB3 | 8q21.3 | 605080 | ACHM3 | 262300 | AR |
| CNGA3 | 2q11.2 | 600053 | ACHM2 | 216900 | AR | ||
| GNAT2 | 1p13.3 | 139340 | ACHM4 | 613856 | AR | ||
| PDE6C | 10q23.33 | 600827 | ACHM5 | 613093 | AR | ||
| PDE6H | 12p12.3 | 601190 | ACHM6 | 610024 | AR | ||
| ATF6 | 1q23.3 | 616517 | ACHM7 | 605537 | AR |