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| ===== Definition ===== | ===== Definition ===== | ||
| - | Nanophthalmos is a rare developmental ocular disorder characterised by a small but structurally normal eye with a significantly | + | * Small but largely |
| + | * Characterized by: | ||
| + | * Significantly | ||
| + | * [[high_hyperopia|High | ||
| + | * High lens-to-eye volume ratio | ||
| + | * Shallow | ||
| + | * Thickened | ||
| + | * Small cornea. | ||
| + | * Distinct | ||
| ===== Potential Causes / Genetics ===== | ===== Potential Causes / Genetics ===== | ||
| Line 33: | Line 41: | ||
| * Crowded optic discs / papillomacular folds — frequently observed. | * Crowded optic discs / papillomacular folds — frequently observed. | ||
| * Retinitis pigmentosa — specifically associated with MFRP variants. | * Retinitis pigmentosa — specifically associated with MFRP variants. | ||
| - | * Choroidal folds — more common in PRSS56 families.* | + | * Choroidal folds — more common in PRSS56 families. |
| - | * Multiple ciliary body cysts — associated with autosomal dominant genes (MYRF, TMEM98).* | + | * Multiple ciliary body cysts — associated with autosomal dominant genes (MYRF, TMEM98). |
| ===== Complications ===== | ===== Complications ===== | ||
| - | * Angle-closure glaucoma (ACG) — the most significant complication, | + | * Angle-closure glaucoma (ACG) — the most significant complication, |
| - | * Uveal effusion syndrome — results from impaired transscleral fluid outflow through the abnormally thickened sclera. More common with PRSS56 variants.* | + | * Uveal effusion syndrome — results from impaired transscleral fluid outflow through the abnormally thickened sclera. More common with PRSS56 variants. |
| - | * Retinal detachment — a recognised spontaneous and post-operative complication.* | + | * Retinal detachment — a recognised spontaneous and post-operative complication. |
| - | * Choroidal detachment — may occur spontaneously or post-operatively.* | + | * Choroidal detachment — may occur spontaneously or post-operatively. |
| - | * Legal blindness — reported in approximately 16.7% of patients.* | + | * Legal blindness — reported in approximately 16.7% of patients. |
| - | * Post-surgical complications — intraocular surgery carries an extremely high complication rate, including malignant glaucoma, suprachoroidal haemorrhage, | + | * Post-surgical complications — intraocular surgery carries an extremely high complication rate, including malignant glaucoma, suprachoroidal haemorrhage, |
| - | ===== Treatment | + | ===== Surgical Consideration |
| - | Treatment of nanophthalmos is challenging due to the high rate of surgical complications. | + | Treatment |
| == Medical Management == | == Medical Management == | ||
| - | + | | |
| - | | + | * Cycloplegic agents — may be used for refractive correction in children. |
| - | * Cycloplegic agents — may be used for refractive correction in children.* | + | |
| == Laser Therapy == | == Laser Therapy == | ||
| - | + | | |
| - | | + | * Laser gonioplasty — successful in ~92% of eyes. |
| - | * Laser gonioplasty — successful in ~92% of eyes.* | + | * Laser therapy is generally preferred over incisional surgery due to the lower complication rate. |
| - | * Laser therapy is generally preferred over incisional surgery due to the lower complication rate.* | + | |
| == Surgical Management == | == Surgical Management == | ||
| - | + | | |
| - | | + | * Cataract surgery — phacoemulsification has significantly fewer complications than manual small-incision cataract surgery (SICS). Lens extraction can also deepen the anterior chamber and help manage angle closure. |
| - | * Cataract surgery — phacoemulsification has significantly fewer complications than manual small-incision cataract surgery (SICS). Lens extraction can also deepen the anterior chamber and help manage angle closure.* | + | * Combined surgery (limited pars plana vitrectomy + phacoemulsification + IOL implantation + posterior capsulotomy) — reported success rate of ~89% in complex nanophthalmos, |
| - | * Combined surgery (limited pars plana vitrectomy + phacoemulsification + IOL implantation + posterior capsulotomy) — reported success rate of ~89% in complex nanophthalmos, | + | * Pars plana filtration (PPF) — a newer, less invasive technique involving partial ciliary body excision to create an alternative aqueous drainage route. Early results suggest safety and efficacy, but larger studies are needed. |
| - | * Pars plana filtration (PPF) — a newer, less invasive technique involving partial ciliary body excision to create an alternative aqueous drainage route. Early results suggest safety and efficacy, but larger studies are needed.* | + | * Vortex vein decompression — less frequently reported; used for uveal effusion. |
| - | * Vortex vein decompression — less frequently reported; used for uveal effusion.* | + | * Adjunctive treatments — mitomycin C and intravitreal anti-VEGF injections have been used as adjuncts to scleral decompression surgery. |
| - | * Adjunctive treatments — mitomycin C and intravitreal anti-VEGF injections have been used as adjuncts to scleral decompression surgery.* | + | |
| == Key Surgical Principles == | == Key Surgical Principles == | ||
| - | + | | |
| - | | + | * Prophylactic sclerostomy should be considered when intraocular surgery is planned. |
| - | * Prophylactic sclerostomy should be considered when intraocular surgery is planned.* | + | * Genetic counselling is recommended, |
| - | * Genetic counselling is recommended, | + | |
| =====References===== | =====References===== | ||
| - | 1. Comprehensive Genetic Landscapes and Clinical Heterogeneity in Nanophthalmos: | + | - [[https:// |
| - | 2. Clinical Features of Patients With Mutations in Genes for Nanophthalmos. Li X, Xiao H, Su Y, et al. The British Journal of Ophthalmology. 2024; | + | - [[https://pubmed.ncbi.nlm.nih.gov/ |
| - | 3. Clinical Spectrum and Treatment Outcomes of Patients With Nanophthalmos. Rajendrababu S, Shroff S, Uduman MS, Babu N. Eye (London, England). 2021; | + | - [[https://pubmed.ncbi.nlm.nih.gov/ |
| - | 4. The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort. Siggs OM, Awadalla MS, Souzeau E, et al. Clinical Genetics. 2020; | + | - [[https://pubmed.ncbi.nlm.nih.gov/ |
| - | 5. Novel TMEM98, MFRP, PRSS56 Variants in a Large United States High Hyperopia and Nanophthalmos Cohort. Prasov L, Guan B, Ullah E, et al. Scientific Reports. 2020; | + | - [[https://pubmed.ncbi.nlm.nih.gov/ |
| - | 6. The Majority of Autosomal Recessive Nanophthalmos and Posterior Microphthalmia Can Be Attributed to Biallelic Sequence and Structural Variants in MFRP and PRSS56. Almoallem B, Arno G, De Zaeytijd J, et al. Scientific Reports. 2020; | + | - [[https://www.nature.com/ |
| - | 7. Sclerectomies in Nanophthalmos and Idiopathic Uveal Effusion Syndrome: A Systematic Review. Braga de Sousa L, Barbosa-Breda J. Graefe' | + | - [[https://pubmed.ncbi.nlm.nih.gov/ |
| - | 8. Effect of Combined Surgery in Patients With Complex Nanophthalmos. Wei Y, Su Y, Fang L, et al. Journal of Clinical Medicine. 2022; | + | - [[https://www.mdpi.com/ |
| - | 9. Nanophthalmos: | + | - [[https://pubmed.ncbi.nlm.nih.gov/ |
| - | 10. Genotype-Phenotype Spectrum in Isolated and Syndromic Nanophthalmos. Lang E, Koller S, Atac D, et al. Acta Ophthalmologica. 2021; | + | - [[https:// |