Grand RoundsGrand RoundsNanophthalmosNanophthalmos

Mark Sherman MDMark Sherman MD

University of LouisvilleUniversity of Louisville

Department of Ophthalmology and Visual Department of Ophthalmology and Visual SciencesSciences

2/20/20152/20/2015

SubjectiveSubjectiveCC:CC: Decreased vision OU x several years Decreased vision OU x several years

HPIHPI: 23 year old white female presented to the cornea clinic : 23 year old white female presented to the cornea clinic for evaluation of decreased vision and hazy corneas OU. for evaluation of decreased vision and hazy corneas OU. The patient stated that the right eye has always had low The patient stated that the right eye has always had low vision since she had cataract surgery, but the left eye was vision since she had cataract surgery, but the left eye was “okay” until 2-3 years ago when the vision began to “okay” until 2-3 years ago when the vision began to progressively deteriorate. The patient had not see an progressively deteriorate. The patient had not see an ophthalmologist since her previous surgeries.ophthalmologist since her previous surgeries.

POHPOH: Nanophthalmos OU, congenital nystagmus, chronic : Nanophthalmos OU, congenital nystagmus, chronic angle closure glaucoma OU, sulcus IOL OD (2009), ACIOL angle closure glaucoma OU, sulcus IOL OD (2009), ACIOL OS (2009)OS (2009)

PMH:PMH: None None

ExamExam ODOD OSOS

BCVABCVA: CF @1’: CF @1’ CF @3’ CF @3’

Pupils:Pupils: Irregular OU Irregular OU

IOPIOP:: 27 27 31 31

EOM:EOM: Full OU +horizontal nystagmusFull OU +horizontal nystagmus

CVF:CVF: Mild Constriction OU Mild Constriction OU

ExamExam

Clinic Exam ODClinic Exam OD

Corneal diameter Corneal diameter ~9.0 mm~9.0 mm

Clinic Exam OSClinic Exam OS

Corneal diameter Corneal diameter ~8.5 mm~8.5 mm

Assessment/PlanAssessment/Plan

Assessment:Assessment: 23 year old white female with 23 year old white female with nanophthalmos OU, chronic low vision OD nanophthalmos OU, chronic low vision OD secondary to chronic angle closure secondary to chronic angle closure glaucoma, and a decompensated cornea glaucoma, and a decompensated cornea OS secondary to bullous keratopahyOS secondary to bullous keratopahy

Plan:Plan: Penetrating keratoplasty OSPenetrating keratoplasty OSStart topical glaucoma drops OUStart topical glaucoma drops OURefer to glaucoma clinic after Refer to glaucoma clinic after

surgerysurgery

Surgical VideoSurgical Video

2 week follow up OS2 week follow up OS

VA: 20/125 IOP: 25 mmHGVA: 20/125 IOP: 25 mmHG

NanophthalmosNanophthalmos

Rare disease characterized by a small eye Rare disease characterized by a small eye secondary to compromised growthsecondary to compromised growth

Typically have extreme axial hyperopia Typically have extreme axial hyperopia (15-20 mm axial length and 7-15 diopters) (15-20 mm axial length and 7-15 diopters) without any other obvious structure without any other obvious structure defectsdefects

Usually a small, functional eye with Usually a small, functional eye with relatively normal internal organization relatively normal internal organization and proportions as apposed to and proportions as apposed to microphthalmos which has a small microphthalmos which has a small disorganized globe with little to no visual disorganized globe with little to no visual potentialpotential

NanophthalmosNanophthalmos

Often have a high lens-to-eye volume Often have a high lens-to-eye volume leading to crowding of the anterior leading to crowding of the anterior segment and angle-closure glaucomasegment and angle-closure glaucoma

Can be sporadic or hereditary Can be sporadic or hereditary both autosomal dominant and recessive both autosomal dominant and recessive

inheritance patterns have been reportedinheritance patterns have been reported Autosomal dominant variant has been mapped Autosomal dominant variant has been mapped

to chromosome 11to chromosome 11

NanophthalmosNanophthalmos

Refractive error is managed with fully Refractive error is managed with fully corrected cycloplegic refractioncorrected cycloplegic refraction Often younger patient require bifocals due to Often younger patient require bifocals due to

incomplete accommodation ablilityincomplete accommodation ablility

Angle-closure glaucoma is managed Angle-closure glaucoma is managed medicallymedically Often peripheral laser iridotomy with Often peripheral laser iridotomy with

peripheral laser iridoplasty are effective in peripheral laser iridoplasty are effective in treatment of the angle-closure glaucomatreatment of the angle-closure glaucoma

Cataract surgery is often complicated by Cataract surgery is often complicated by uveal effusion or hemorrhage and/or uveal effusion or hemorrhage and/or retinal detachmentretinal detachment

ReferencesReferences BCSC: External Disease and Cornea. BCSC: External Disease and Cornea.

Nanophthalmos.Nanophthalmos. Pgs: 250-51. Pgs: 250-51. BCSC: External Disease and Cornea. BCSC: External Disease and Cornea.

Microphthalmos.Microphthalmos. Pgs: 249-250. Pgs: 249-250. Faucher A. Hasanee K, et al. Phacoemulsification Faucher A. Hasanee K, et al. Phacoemulsification

and introcular lens implantation in nanophthalmic and introcular lens implantation in nanophthalmic eye: report of medium size serieseye: report of medium size series. J Cataract . J Cataract Refractive Surgery.Refractive Surgery. 2002;28. 2002;28.

Othman MI, Sullican SA, et al. Autosomal Othman MI, Sullican SA, et al. Autosomal dominant nanophthalmos with high hyperopia and dominant nanophthalmos with high hyperopia and angle-closure glaucoma mapts to chromosome 11. angle-closure glaucoma mapts to chromosome 11. Am J Hum GeneticsAm J Hum Genetics. 1998;63(5) 1411-18.. 1998;63(5) 1411-18.

Yamani A. Wood I, et al. Abnormal collagen fibrils Yamani A. Wood I, et al. Abnormal collagen fibrils in nanophthalmos: a clinical and hstiologic study. in nanophthalmos: a clinical and hstiologic study. Am J Ophthamol.Am J Ophthamol. 199;127(1):106-8. 199;127(1):106-8.