Phenotype #0000305205

Individual ID	00413224
Associated disease	-
Phenotype details	5-6y: presented with low visual acuity (0.05-0.1), hypermetropic astigmatism (of 2.5-3.0 cyl D), total inability to distinguish colors, and visual field constriction; fundi: pale optic discs and round, dystrophic changes in the central maculae with pigment rearrangements; visual acuity gradually decreased to counting fingers from 1.5 m - 20y, and hand movements - 25y; >20y: extensive retinochoroidal atrophy of both maculae, narrowing of the retinal vessels, secondary optic nerve atrophy, and pigment deposits in the peripheral retina; bilateral posterior subcapsular cataracts; night vision getting worse, but still better than in bright light; concentric narrowing of the visual fields (7-10deg); optical coherence tomography: flat foveae profile, photoreceptor atrophy, disturbed retinal layer structure; flash electroretinogram: totally extinguished photopic and scotopic responses, multifocal electroretinogram: no central maculae responses; ocular ultrasound: optic disc drusen and vitreous focal condensations; tooth enamel hypoplasia in early childhood; lost their permanent teeth shortly after 20y; apparent muscular overgrowth of the legs not observed in the other family members; neurological examination: patient denied muscular weakness, cramps, myalgia, gait difficulties, rigidity, sensation abnormalities, fasciculations, respiratory problems, hearing impairment, dysphagia, or tendency to fall; continued to work as a professional physiotherapist; nystagmus, mild contractures of the knees and Achilles tendons, weakened deep tendon reflexes from biceps and brachioradialis, symmetric overgrowth of the legs, particularly in the quadriceps and calves, weak patellar Achilles tendon reflexes, and impaired heel walking due to Achilles tendon contractures; the rest of the neurological examination normal; increased creatine kinase concentration in blood (1,051 U/L, normal 38-174 U/L), mild elevation of transaminases (ALT 58 IU/L, normal 10-41 U/L; AST 44 IU/L,normal10-37IU/L), lactic acid and LDH: normal; motor and sensory nerve conduction velocities: normal; evoked compound motor action potentials and sensory nerve action potentials: normal; needle electromyography of the right deltoid, tibialis anterior, and vastus lateralis muscles: increased recruitment pattern, with spontaneous activity demonstrated as pseudomyotonic discharges; motor unit action potentials duration of all the muscles shortened, while amplitudes remained normal - the electromyographic examination demonstrated myopathic involvement
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Jalili Syndrome
Age/Examination	30y (30 years)
Age/Diagnosis	-
Age/Onset	0m
Phenotype/Onset	congenital nystagmus, photophobia appeared later in infancy
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-07-12 15:08:53 +02:00 (CEST)
Date last edited	N/A