Table 1 Summary of mutations, ophthalmologic findings, and other features of the two patients
From: Expanding the clinical and genetic spectrum of Heimler syndrome
Case 1 | Case 2 | |
|---|---|---|
Ethnicity/gender | Chinese/male | Chinese/female |
Age of eye examination (years) | 9 | 8 |
Mutation | PEX1 c.2966 T > C; p.Ile989Thr PEX1 c.2097_2098insT; p.Phe699Phefs*43 | PEX1 c.895_896insTATA p.Asn299Ilefs*2 PEX1 c.2966 T > C p.Ile989Thr |
Family history | Unremarkable | Unremarkable |
Ophthalmic findings | ||
-IOP (mmhg) | 10/10 | 9/10 |
-BCVA | 0.8/0.6 | 0.4/0.5 |
- Cycloplegic refraction | R: + 3.25/+ 2.75X85 L: + 3.75/+ 3.00X85 | R: + 3.75/− 0.5X67 L: + 1.65/− 0.37X88 |
- Color amblyopia | Color amblyopia | N |
- Cornea | N | N |
-Corneal curvature | R: 41.11/45.36 D L: 41.01/44.53 D | R: 45.55/46.30 D L: 45.98/46.49 D |
-Central corneal thickness | 563 um/563 um | NA |
- Anterior chamber depth | 2. 65 mm/2.54 mm | 1.99 mm/1.99 mm |
- Iris | N | N |
- Axial lengths | 20.69 mm/20.49 mm | 20.17 mm/20.30 mm |
- Lens | N | N |
-UBM | N | N |
- Retinal vessels | N | N |
-Retina | Retinal atrophy in the mid and far periphery combined with significant bone spicule-like pigmentation | Retinal atrophy in the mid and far periphery combined with significant bone spicule-like pigmentation |
- Optic nerve | The inferionasal rim of the optic disc is blurred (R and L) | The inferionasal rim of the optic disc is blurred (R and L) |
-B scan | Light to moderate turbidity in the front and middle sections of the vitreous, posterior vitreous detachment | Light turbidity in the front and middle sections of the vitreous, posterior vitreous detachment |
-RNFL thickness | N | N |
-ffERG | Profoundly attenuated rod ERGs, subnormal and delayed cone ERGs. | Undetectable rod ERG, subnormal bright flash ERG, subnormal and delayed cone ERG. |
-mfERG | Amplitudes in posterior-pole of both eyes were significantly reduced, more seriously in the right eye | Amplitudes in posterior-pole of both eyes were significantly reduced, more seriously in the right eye |
-VEP | Reduced of P100 amplitude. | Prolongation of latency and lowness of amplitude. |
- Humphrey visual field | Peripheral visual field loss, with small central loss | Peripheral visual field loss, except for the superior nasal quadrant |
- Goldman visual field | NA | Peripheral visual field constriction |
-SD-OCT | Centrally preserved ISe band with small retinal cysts of the inner nuclear layer | Multiple large intraretinal cysts |
- Orbital MRI | N | N |
- Sensorineural hearing loss | + | + |
-Teeth | Amelogenesis imperfecta | Amelogenesis imperfecta |
- Nail abnormalities | N | N |
- Intellect | N | N |
- Electroencephalography | The frequency of theta rhythm is slightly increased | NA |
- Development | N | N |
- Psychomotor | N | N |