1. Grand Rounds Nanophthalmos Mark Sherman MD University of Louisville Department of Ophthalmology and Visual Sciences 2/20/2015

2. Subjective CC: Decreased vision OU x several years HPI: 23 year old white female presented to the cornea clinic for evaluation of decreased vision and hazy corneas OU. The patient stated that the right eye has always had low vision since she had cataract surgery, but the left eye was “okay” until 2-3 years ago when the vision began to progressively deteriorate. The patient had not see an ophthalmologist since her previous surgeries. POH: Nanophthalmos OU, congenital nystagmus, chronic angle closure glaucoma OU, sulcus IOL OD (2009), ACIOL OS (2009) PMH: None

3. Exam OD OS OD OS BCVA: CF @1’ CF @3’ Pupils: Irregular OU IOP: 27 31 EOM:Full OU +horizontal nystagmus CVF: Mild Constriction OU

4. SLE: OD OS L/L WNL WNL L/L WNL WNL Conjunctiva WNL WNL Conjunctiva WNL WNL K Scar from previous Diffuse Haze and edema cataract surgery decompensated K Scar from previous Diffuse Haze and edema cataract surgery decompensated Scar from previous cataract surgery Scar from previous cataract surgery AC Shallow Shallow AC Shallow Shallow I/L Corectopia +PCIOL Corectopia +ACIOL I/L Corectopia +PCIOL Corectopia +ACIOL DFE: ++Pallor MVP WNL No view (B-scan flat) Exam

5. Clinic Exam OD Corneal diameter ~9.0 mm

6. Clinic Exam OS Corneal diameter ~8.5 mm

7. Assessment/Plan Assessment: 23 year old white female with nanophthalmos OU, chronic low vision OD secondary to chronic angle closure glaucoma, and a decompensated cornea OS secondary to bullous keratopahy Plan:Penetrating keratoplasty OS Start topical glaucoma drops OU Refer to glaucoma clinic after surgery

8. Surgical Video

9. 2 week follow up OS VA: 20/125 IOP: 25 mmHG VA: 20/125 IOP: 25 mmHG

10. Nanophthalmos Rare disease characterized by a small eye secondary to compromised growth Rare disease characterized by a small eye secondary to compromised growth Typically have extreme axial hyperopia (15-20 mm axial length and 7-15 diopters) without any other obvious structure defects Typically have extreme axial hyperopia (15-20 mm axial length and 7-15 diopters) without any other obvious structure defects Usually a small, functional eye with relatively normal internal organization and proportions as apposed to microphthalmos which has a small disorganized globe with little to no visual potential Usually a small, functional eye with relatively normal internal organization and proportions as apposed to microphthalmos which has a small disorganized globe with little to no visual potential

11. Nanophthalmos Often have a high lens-to-eye volume leading to crowding of the anterior segment and angle-closure glaucoma Often have a high lens-to-eye volume leading to crowding of the anterior segment and angle-closure glaucoma Can be sporadic or hereditary Can be sporadic or hereditary both autosomal dominant and recessive inheritance patterns have been reported both autosomal dominant and recessive inheritance patterns have been reported Autosomal dominant variant has been mapped to chromosome 11 Autosomal dominant variant has been mapped to chromosome 11

12. Nanophthalmos Refractive error is managed with fully corrected cycloplegic refraction Refractive error is managed with fully corrected cycloplegic refraction Often younger patient require bifocals due to incomplete accommodation ablility Often younger patient require bifocals due to incomplete accommodation ablility Angle-closure glaucoma is managed medically Angle-closure glaucoma is managed medically Often peripheral laser iridotomy with peripheral laser iridoplasty are effective in treatment of the angle-closure glaucoma Often peripheral laser iridotomy with peripheral laser iridoplasty are effective in treatment of the angle-closure glaucoma Cataract surgery is often complicated by uveal effusion or hemorrhage and/or retinal detachment Cataract surgery is often complicated by uveal effusion or hemorrhage and/or retinal detachment

13. References BCSC: External Disease and Cornea. Nanophthalmos. Pgs: 250-51. BCSC: External Disease and Cornea. Nanophthalmos. Pgs: 250-51. BCSC: External Disease and Cornea. Microphthalmos. Pgs: 249- 250. BCSC: External Disease and Cornea. Microphthalmos. Pgs: 249- 250. Faucher A. Hasanee K, et al. Phacoemulsification and introcular lens implantation in nanophthalmic eye: report of medium size series. J Cataract Refractive Surgery. 2002;28. Faucher A. Hasanee K, et al. Phacoemulsification and introcular lens implantation in nanophthalmic eye: report of medium size series. J Cataract Refractive Surgery. 2002;28. Othman MI, Sullican SA, et al. Autosomal dominant nanophthalmos with high hyperopia and angle-closure glaucoma mapts to chromosome 11. Am J Hum Genetics. 1998;63(5) 1411- 18. Othman MI, Sullican SA, et al. Autosomal dominant nanophthalmos with high hyperopia and angle-closure glaucoma mapts to chromosome 11. Am J Hum Genetics. 1998;63(5) 1411- 18. Yamani A. Wood I, et al. Abnormal collagen fibrils in nanophthalmos: a clinical and hstiologic study. Am J Ophthamol. 199;127(1):106-8. Yamani A. Wood I, et al. Abnormal collagen fibrils in nanophthalmos: a clinical and hstiologic study. Am J Ophthamol. 199;127(1):106-8.