Leonid Skorin, Jr, DO

FigureThis 5-month-old boy had been born with elongated pupils. His parents reported that the child's eyes appeared to work in unison (there was no eye crossing) and that he seemed to see well enough to grasp for objects. However, they were concerned about his vision.  

The defect was more extensive in the left eye. Physical findings were otherwise normal.

The patient's medical history was unremarkable. He had been born via normal vaginal delivery. His father had a history of strabismus. The child had fix-and-follow vision in both eyes. Extraocular muscle movement appeared normal. A Hirschberg test showed orthophoria. A Bruckner test showed symmetrical red reflexes in both eyes. Cycloplegic refraction revealed moderate hyperopic correction, which was symmetrical in both eyes. No retinal or optic nerve head defects were noted on dilated fundus examination.

This child has coloboma of the irides. This common anomaly is typically located inferonasally. This anatomic site corresponds to the last area of closure of the embryonic fissure. The malformation resembles a keyhole. The lens, ciliary body, choroid, retina, and optic nerve may also be involved. Visual acuity is usually not affected unless a coloboma of the retina (macula) and optic nerve is also present. Large iris colobomas can cause photophobia. Cosmetic-tinted contact lenses may mask the defect and alleviate the photophobia.

Most cases of isolated colobomas are sporadic, and there is no family history of colobomas-as in this patient's case. This congenital defect may be transmitted as an autosomal dominant characteristic. Colobomas are also associated with several genetic syndromes, the most common of which is CHARGE syndrome. Affected children may have coloboma, heart defects, choanal atresia, retarded growth, genital anomalies, and ear anomalies, and deafness.

Children with colobomas should undergo a dilated fundus examination. If this cannot be performed in the office or if the examination findings are abnormal, an ophthalmological referral is necessary.

This child was seen again at 11 months of age. He appeared healthy. No new eye or vision problems were reported, and ophthalmic findings remained unchanged. He will be followed with annual eye examinations.

Vissers LE, van Ravenswaaij CM, Admiraal R, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet. 2004;36:955-957.

Articles

Bilateral Iris Colobomas

Two children--one with a history of infection, the other with a history of an allergic reaction--were noted to have postinflammatory hyperpigmentation.

 shows a 6-year-old girl with 2 hyperpigmented areas, 1 on the right anterior chest and 1 on the upper arm. The previous month, she had impetigo and was treated with oral cephalexin and topical mupirocin ointment. 

 shows a 14-year-old boy with areas of light tan hyperpigmentation on the neck. At 3 years of age, he had poison ivy dermatitis that resulted in thick black scabs, which eventually peeled away from the edges over several weeks. The resultant hyperpigmentation has remained unchanged for the past 11 years.

Robert P. Blereau, MD, of Morgan City, La, writes that inflammation from allergic or infectious causes can result in hypopigmentation or hyperpigmentation of the involved area. Melanin hyperpigmentation or melanoderma may be classified as follows

 Secondary to skin diseases (eg, tinea versicolor, fixed drug eruption)

 Secondary to external agents (eg, UV light, photosensitizing chemicals)

 Secondary to internal disorders (eg, Addison disease, hyperthyroidism, acanthosis nigricans)

 Secondary to drugs, such as sex hormones

Hypopigmenting agents are the mainstay of treatment, although the results vary and some agents may even worsen the lesions. Hydroquinone is the best topical bleaching agent. A combination cream that contains hydroquinone, tretinoin, and fluocinolone acetonide (Tri-Luma cream) has proved to be more effective than other single agents; in 2 studies, efficacy was 13% and 38% in the resolution of melasma lesions after 8 weeks.

 Topical tretinoin and azelaic acid may also be used as monotherapy. Chemical peels using trichloroacetic acid and alpha hydroxy acids are somewhat effective; however, these treatments have been known to cause postinflammatory hyperpigmentation or hypopigmentation. Laser therapy has shown mixed results.

Use of sunscreens that block UVA and UVB light can prevent further pigmentation. Cosmetics may be used to camouflage the pigmented lesions.

8th ed. Philadelphia: Lippincott Williams & Wilkins; 2000:244.
2. Habif TP. 

Clinical Dermatology: A Color Guide to Diagnosis and Treatment.

Photoclinic: Bilateral Epiblepharon

 Amblyopia (lazyeye) is characterizedbyunilateral orbilateral impairmentin visual acuity,uncorrected by opticalmeans, without detectableanatomic damage in theeye or visual pathway.

 Adiagnosis of amblyopiamust satisfy 3 criteria

The best corrected visualacuity is impaired in 1or both eyes.

There is a history of 1 ormore amblyopia-inducingconditions that affected theamblyopic eye during theperiod of visual immaturity.

There is no organic abnormalityof the visual systemthat could fully accountfor the impaired visualacuity.

Amblyopia may beclassified according to theconditions by which it istypically induced. Theforms of amblyopia includethe following

 Amblyopiadevelops in about40% of children with strabismus,the most commoncause of amblyopia. Esodeviations(turning in ofthe eye) are more commonlyassociated with amblyopiathan are exodeviations(vertical deviations).

 In patientswith isometropic amblyopia,uncorrected bilateralhigh ametropia causesbilateral blur. In patientswith anisometropic amblyopia,image distortion andunequal visual inputscause unilateral blur.

 This condition is associatedwith media opacity,eyelid ptosis, and eyelidhemangioma that obstructthe visual axis.

 This formis induced by occlusion(patching).

Successful treatmentof amblyopia must incorporate2 key strategies.

The first is to optimize theclarity of the retinal image in the amblyopic eye. Thisis accomplished by providinga clear visual axis (eliminationof any obstacle to vision)and correcting significantrefractive error. Thesecond is to intensify theneural stimuli to the visualcortex. This is achieved bylimiting the stimulus to thenonamblyopic eye, thereby"forcing" the amblyopic eyeto function.

Optical degradation withopaque contact lens orgraded transparent filterson an eyeglass lens.

Defocusing (penalization)through the applicationof atropine 1%, a cycloplegicagent, to thestronger eye.

Active therapy consistsof occluding the strongereye while exposing theamblyopic eye to visualstimuli.

Traditionally, treatmentof amblyopia in childrenolder than 9 yearswas not recommended becauseexperts believedthat the visual system wasmature by that age. However,a new study from the Pediatric Eye Diseases InvestigatorGroup showedthat age should not be alimiting factor in initiatingamblyopia therapy.

 Thestudy enrolled 507 children,aged 7 to 17 years,with amblyopia. All participantswere provided withmaximal optical correction,and one group wasrandomly selected to receiveadditional treatment(2 to 6 hours per day ofprescribed patching combinedwith near visual activitiesfor all patients, plusatropine sulfate eyedropsfor children aged 7 to 12years). Children whoshowed improvement inthe amblyopic eye of 2 ormore lines of vision on astandard eye chart wereconsidered responders.

The researchersfound that 53% of childrenaged 7 to 12 years in thetreatment group were responders,compared withonly 25% of children ofthe same age in the opticalcorrectiongroup. In the13- to 17-year-olds, 25% ofthe treatment group and23% of the optical-correctiongroup were responders.In this age group,47% of children in thetreatment group who hadnever been treated for amblyopiawere responders, compared with only 20% ofthose in the optical-correctiongroup.

Because it was unclearwhether improvement invisual acuity could besustained once treatmentwas discontinued, the researchersstopped short ofrecommending a changein current clinical practice.However, they are conductinga 1-year follow-upstudy to determine the degreeof amblyopia that recursamong responders.

Wearing glasses mayaffect children socially. In arecent 1-year study, theauthors examined datafrom 6536 preadolescentchildren who wore glasses,had manifest strabismus, orhad a history of wearingan eye patch.

 Psychologistsinterviewed the childrento identify the amountof bullying they were involvedin, either as victimsor as perpetrators. Resultsshowed that after adjustmentfor sex, visual impairment,social class, and maternaleducation, these childrenwere 35% to 37% morelikely than other childrento be targets of physical orverbal bullying. Considerrecommending contact lenses instead of glassesfor children who feel especiallyvulnerable.

 Wickum SM. Amblyopia. In:Onofrey BE, Skorin L, Holdeman NR,eds. 

Ocular Therapeutics Handbook: AClinical Manual

. 2nd ed. Philadelphia:Lippincott Williams & Wilkins;2005:627-630.
 

 Keech RV. Practical managementof amblyopia. 

Focal Points ClinicalModules for Ophthalmologists

. Vol. 18,No. 2. San Francisco: American Academyof Ophthalmology; 2000:1-13.
 

 Press LJ, Kohl P. Vision therapy foramblyopia. In: Moore BD, ed. 

.Boston: Butterworth-Heinemann;1997:155-173.
 

 Scheiman MM, Hertle RW, BeckRW, et al. Randomized trial of treatmentof amblyopia in children aged7 to 17 years. 

 Horwood J, Waylen A, Herrick D,et al. Common visual defects and peervictimization in children. 

Pediatrics Update: Amblyopia Therapy Is for Older Children Too

Author | Leonid Skorin, Jr, DO

Articles

Bilateral Iris Colobomas

Photoclinic: Bilateral Epiblepharon

Pediatrics Update: Amblyopia Therapy Is for Older Children Too