TABLE 1.

Summary of clinical data in high myopia patients with alopecia areata in the cranial midline.

	14410	14518	20204	5176	7856	19618
Gene	COL18A1	COL18A1	COL18A1	LAMA1	LAMA1	LAMA1
Gender	Male	Male	Male	Male	Male	Female
Age at onset of disease (years)	5	2	4	2	0.5	0.4
First complain sigh	Strabismus	Strabismus	Nystagmus Strabismus	Strabismus	Strabismus	Strabismus
Age when examined	6	8	17	3	2.75	3
Visual acuity (R/L)	0.06/0.12	0.06/0.03	0.05/0.05	0.2/0.1	NA	NA
High myopia (R/L)	–10.25/–7.75	–11.50/–11.25	–18.00/–10.25	–11.50/–13.25	–12.25/–10.50	–15.00/–14.00
Anterior segment	(–)	(–)	Cataract OU	(–)	(–)	(–)
Optic disc	Peripapillary atrophy	Peripapillary atrophy	Peripapillary atrophy	Disc pallor	Disc pallor	Disc pallor
Leopard fundus	+++	+++	+++	+	+++	+++
Chorioretinal sclerosis and atrophy	+++	+++	+++	+	+++	+++
Macular atrophy	++	+++	+++	+++	+	+++
Pigment distribution	–	Center++/periphery++	Periphery++	Center+	–	Periphery++
Strabismus	+	+	+	+	+	+
Nystagmus	+	+	+	+	+	NA
Axial length (OD/OSmm)	NA	26.16/26.44	NA	26.32/26.01	NA	NA
ERG	NA	NA	Moderately reduced	Moderately reduced	Severe reduced	Moderately reduced
Scalp defect region	Occipital	Occipital	Occipital	Parietal	Parietal	Parietal
CSF leak	Transient	Transient	Transient	Denied	Denied	Denied
Skull	Normal	Occipital bone defect	Normal	Parietal bone defect	Normal	NA
MRI	Normal	NA	NA	Cerebellar dysplasia with enlarged fourth ventricle; cortical-subcortical cysts	Cerebellar dysplasia with enlarged fourth ventricle	NA
Other system defects	–	–	–	Accessary ear in the left	Motor delay and ataxia	Motor delay and ataxia

NA, not available; ERG, electroretinogram; CSF, cerebrospinal fluid.