Case Report Shows Management of Amblyopia in CHARGE Syndrome Patient

A little boy wearing glasses and an eye patch.
A little boy wearing glasses and an eye patch (plaster, occluder). Apes or grimaces. He undergoes vision treatment to prevent amblyopia and strabismus (squint, lazy eye). Child congenital vision disease problem.
A case report shows an effective approach to treating amblyopia in a patient with ocular abnormalities associated with the genetic disorder.

A recent report published in Clinical Optometry describes a rare case of CHARGE syndrome and summarizes the amblyopia treatment that was effective for the patient, including part-time patching with refractive correction.

CHARGE (coloboma, heart defects, atresia of the choanae, restriction in growth and/or development, genital anomalies, and ear anomalies) syndrome is a rare genetic disorder associated with ocular anomalies, including amblyopia, strabismus, and high refractive errors. 

The patient was a 7-year-old girl born premature at 29 weeks and diagnosed with congenital heart defect at 3 years of age. She presented with facial features associated with CHARGE syndrome and had a history of hearing loss and restriction in growth. She had no history of wearing glasses, but described a gradual decrease in distance vision for both eyes for the prior 2 years; her parents reported that she had not had an ocular examination for the past 3 years.

At her first visit, the clinic found that the patient has a very mild bilateral chorioretinal/optic disc coloboma. Her intraocular pressures were 15 mm Hg in the right eye and 16 mm Hg in the left eye. Uncorrected visual acuity (VA) was 20/40 (with pinhole, 20/30) in her right eye and 20/100 (with pinhole, 20/50) in her left eye. Averaged static measurements of refractive error were taken using dry auto refraction (right eye, SPH -0.75; CYL -3.25; AXIS 22; left eye, SPH -2.50; CYL -2.75; AXIS 153) and cycloplegic auto refraction (right eye, SPH plano; CYL -3.50; AXIS 20; left eye, SPH -1.25; CYL -3.00; AXIS 145), demonstrating high mixed astigmatism in both eyes.

After a week, the patient underwent a post mydriatic test and subjective refraction to determine her tolerance of maximum cylindrical power correction (best subject refraction: right eye, SPH plano; CYL -1.75; AXIS 20; VA 20/30; VA with pinhole 20/30; left eye, SPH -1.00; CYL -2.00; AXIS 145; VA 20/50; VA with pinhole 20/50).

As a first intervention strategy for treatment of bilateral amblyopia, the patient was prescribed glasses, and the parents were instructed to ensure a full-time wearing of the glasses and part-time patching of the right eye (4-6 hours a day) for 2 months.

After 2 months, the parents reported that the patient had improved vision with the prescription glasses, which she had been wearing full time, and confirmed partial adherence to part-time patching of the right eye (1–2 hours/day). Re-evaluation of visual function showed no significant differences in dry objective and subjective refraction compared with measurements from the previous visit (subject refraction: right eye, SPH plano; CYL -1.75; AXIS 20; VA 20/30; VA with pinhole 20/25; left eye, SPH -1.00; CYL -2.00; AXIS 145; VA 20/40-2; VA with pinhole 20/40). 

The treatment plan will continue with the clinic monitoring the development of the patient’s visual system and providing optimum correction of refractive error along with amblyopia treatment until she reaches 12 years of age.

The case demonstrates that part-time patching with refractive correction can effectively manage amblyopia in patients with CHARGE syndrome, according to the clinicians. “Eye practitioners should be aware of the other ocular abnormalities associated with [CHARGE syndrome] including high refractive errors, strabismus and amblyopia.”


Aldakhil S. CHARGE syndrome associated with ocular abnormalities: a case report with treatment of amblyopia and refractive correction. Clin Optom (Auckl). 2021;13:303-307. doi:10.2147/OPTO.S335805