Table 1.

Differentiating features of homocystinuria from other similar clinical entities

Disease	Systemic features	Ocular features
Marfan’s syndrome	Joint hypermobility	Ectopia lentis, myopia, retinal detachment, cataract, glaucoma, amblyopia, strabismus
	Pectus excavatum, Pes planus, scoliosis, Mitral Valve Prolapse (MVP), pneumothorax, aortic root dilation, increased arm span: height ratio, skin striae
Ehlers-Danlos syndrome	Skin hyperextensibility, fragility, joint hypermobility, scoliosis, hip dislocation, cigarette paper scars on the skin, spontaneous rupture of medium- and large-sized arteries	Ectopia lentis, myopia, blue sclera, retinal detachment, globe rupture secondary to trauma
Weill-Marchesani syndrome	Short stature, brachydactyly, joint stiffness	Microspherophakia and lens dislocation
Hyperlysinemia	Intellectual disability, behavioral problems, cognitive impairment	Ectopia lentis
Sulfite oxidase deficiency	Encephalopathy, seizures, opisthotonus, microcephaly, dystonia, ataxia, developmental regression	Ectopia lentis, elongated palpebral fissures, cortical blindness
Aniridia	Behavioral problems, developmental delays, glucose intolerance	Nystagmus, glaucoma, cataract
Congenital glaucoma		Watering, photophobia, blepharospasm, scleral thinning, buphthalmos, Haab’s striae, subluxated lens, disk cupping
Ectopia lentis et pupillae		Lens dislocation, iris abnormalities, refractive error, cataract, raised IOP, Retinal Detachment (RD)