Phthisis Bulbi

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Article initiated by:

Marianna Kavalaraki MD, Msc

All contributors:

Kelvin Chong, MB ChB FHKAM(Ophth), Michael T Yen, MD, Marianna Kavalaraki MD, Msc, Shannon S. Joseph, M.D., Jake Uy Sebastian, MD (DPBO)

Assigned editor:

Kelvin Chong, MB ChB FHKAM(Ophth)

Review:

Assigned status Up to Date

 by Kelvin Chong, MB ChB FHKAM(Ophth) on December 4, 2024.

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Disease Entity

Disease

Phthisis bulbi is an clinical condition representing an end-stage ocular response to severe eye injury or disease damage, related to a variety of causes leading to scarring, inflammation, atrophy and eventually disorganization of the globe and intraocular contents. Also called end-stage eye, phthisis bulbi can be described as a shrunken, collapsed, non-functional eye and presents with a small squared off shape, opaque and thickened cornea, thickened sclera, iris neovascularization, cataract, cyclitic membranes, and ciliochoroidal or retinal detachment. A mnemonic rule used to describe phthisis bulbi is ''7S" referring to an eye that is: Soft - Shrunken - Shapeless - Sightless - Structureless - Squared - Sore.

Yanoff and Fine proposed the following descriptive grading system based on clinicopathological features:

• Grade I : Atrophia bulbi without shrinkage
• Grade II : Atrophia bulbi with shrinkage
• Grade III : Atrophia bulbi with shrinkage and disorganization (phthisis bulbi)
• Grade IV : Phthisis bulbi with intraocular ossification
• Grade V : Phthisis bulbi with intraocular calcium deposition

Etiology

Phthisis bulbi is an end-stage ocular disease which can result from a variety of ocular insults including: trauma, surgery, infection, inflammation, malignancy, retinal detachment, and vascular lesion

Traumatic

• Open globe injury
• Closed globe injury
• Chemical injury — alkali burn
• Radiation

Infections

• Keratitis
• Endophthalmitis
• Panophthalmitis

Postoperative

• Anterior segment surgeries (cataract surgery via anterior route and lensectomy, glaucoma surgery, corneal surgeries)
• Posterior segment surgeries (vitrectomy for endophthalmitis, retained intraocular foreign bodies, suprachoroidal hemorrhage, silicone oil removal, vitreoretinal surgery for retinal detachment with complex proliferative vitreoretinopathy, as a result of penetrating trauma, combined rhegmatogenous & tractional retinal detachment in diabetics, retinectomy for intractable glaucoma pneumatic retinopexy, drainage of suprachoroidal hemorrhage)

Inflammation

• Intermediate uveitis is the most common inflammatory cause of end-stage eye disease. In the advanced stages of intermediate uveitis, cyclitic membranes may form leading to hypotony and phthisis.
• Juvenile Idiopathic Arthritis (JIA) & Childhood-onset Behçet disease
• Sympathetic ophthalmia
• Vogt-Koyanagi-Harada syndrome
• Autosomal dominant neovascular inflammatory vitreoretinopathy.

Vascular disorders

• Ocular ischemic syndrome
• Coat's disease
• Retinopathy of prematurity (ROP)
• Proliferative diabetic retinopathy (PDR)
• Retinal capillary hemangioblastoma

Congenital Causes

• Persistent hyperplastic primary vitreous
• Peters’ anomaly type 2
• Norrie disease
• Familial exudative vitreoretinopathy
• Incontinentia pigmenti
• Osteoporosis-pseudoglioma syndrome (OPPG)

Tumors

• Retinoblastoma
• Choroidal melanoma
• Rare tumors including adenoma of the nonpigmented ciliary epithelium, double pseudo-neoplastic proliferation of the RPE, primary retinal glial tumor with features of myxopapillary ependymoma, osteogenic sarcoma, concurrent benign teratoid medulloepithelioma and pineoblastoma, and conjunctival spindle cell carcinoma.

Medications

• Cidofovir

Miscellaneous

• Parry–Romberg syndrome
• Uveal effusion syndrome
• Sickle cell disease
• Neurofibromatosis

History

The term phthisis bulbi derives from the Greek word phthiein or phthinein , meaning shrinkage or consuming, and was first used by Galen. Over the last 200 years, the clinical interpretation of phthisis bulbi has often been modified according to the underlying disease and structural changes; a clear distinction from ocular atrophy was often difficult and controversial. Hogan and Zimmerman were the first ones who stated that both terms – atrophy and phthisis bulbi – refer to consecutive stages in the degeneration process of a severely damaged eye. Their descriptive classification system including three different stages – (1) ocular atrophy without shrinkage; (2) with shrinkage; and (3) with shrinkage and disorganization.

General Pathology

Microscopic features include internal disorganization, inflammatory reaction, a reactive proliferation of various cells, calcification, and ossification. The globe is reduced in size (usually <20 mm) with a thickened/folded posterior sclera. Dystrophic calcification is common, and osseous metaplasia sometimes occurs, forming what is called "intraocular bone".

Pathophysiology

The major factors associated with the pathogenesis of phthisis are ocular hypotony, deranged blood-ocular barriers, and intraocular inflammation. Hypotony causes alteration of oxygenation, nutrition and metabolism, while the breakdown of the blood-ocular barrier leads to loss of plasma proteins and release of cytokines, chemotactic & angiogenetic factors.

Diagnosis

Physical examination

A phthisical eye can usually be easily detected by inspection of the patient’s face, and the diagnosis is usually straightforward due to the unilaterality of the disease with asymmetry of the eyeballs and interpalpebral fissures.

Signs

• Microphthalmos
• Enophthalmos
• Lagophthalmos
• Reduced eyelid fissure
• Strabismus
• Conjunctival chemosis and hyperemia
• Corneoscleral scarring, thickening, vascularization, dystrophic calcification and shrinkage
• Flattening of the anterior chamber with a narrow to closed chamber angle
• Hypotony
• Neovascularization of the iris and chamber angle (rubeosis iridis)
• Intraocular inflammation (uveitis/endophthalmitis)
• Synechia (peripheral/posterior)
• Cyclitic/epiretinal membranes (fibrous/fibrovascular)
• Cataract formation
• Phacodonesis (anterior displacement of the ciliary body)
• Choroidal and/or retinal detachment
• Epiretinal membranes
• Choroidal/ciliary body, retinal, and optic nerve degeneration/atrophy
• Intraocular hemorrhages
• Dystrophic calcification and heterotopic ossification

Symptoms

• vision loss
• blurry vision
• floaters
• photophobia
• ocular pain
• redness
• periorbital edema
• visual loss

Differential diagnosis

Although the underlying diseases and the clinical course of phthisis bulbi are quite variable, the end-stage disease is rarely missed because of characteristic clinical features (i.e. small, soft, atrophic eyes), which are often associated with decreased or lost vision. However, clinicians should be aware of any associated disease entities which, if not treated properly, may result to a blind, often painful phthisical eye. Intraocular malignancies (i.e., retinoblastoma, malignant uveal melanoma) should be taken into consideration if the ocular history is limited and an obvious cause for the development of phthisis is missing. Relevant investigation with radioimaging may be necessary in these situations. In addition, congenital abnormalities like microphthalmos and microcornea should be kept in the differential diagnosis of phthisis bulbi.

Management

General treatment

Treatment approach for a phthisic eye is often futile, and mainly aims at alleviating ocular pain and at cosmetic rehabilitation of the affected eye, and not to restore vision. It can be removed through a procedure called enucleation of the eye. Sometimes it is possible to transplant only parts of the eye, and some vision can be restored.

Surgery

Prosthetic rehabilitation of phthisis bulbi is the only treatment option for cosmetic rehabilitation of patients with such defects. A method for carefully crafting a bespoke ocular prothesis demonstrating proper comfort, fit, and aesthetic symmetry with the contralateral eye using photographic imprinting, was described in full by Vijayan A. et al.