Clinical background
Key symptoms and signs
Phthisis bulbi represents an ocular end-stage disease of various causes and is defined by atrophy, shrinkage, and disorganization of the eyeball and intraocular contents ( Box 54.1 ). Subjective complaints depend on the etiology and severity of phthisis bulbi. Typical clinical symptoms and signs include chronic ocular hypotension (5 mmHg), a shrunken globe, pseudoenophthalmos, intraocular tissue fibrosis and scarring, vision loss, and recurrent episodes of intraocular irritation and pain.
Phthisis bulbi represents an ocular end-stage disease characterized by:
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Atrophy
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Shrinkage
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Disorganization of the eyeball and its intraocular contents
Historical development
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 – has been further modified by Yanoff and Fine ( Table 54.1 ).
| I | Atrophy bulbi without shrinkage |
| II | Atrophia bulbi with shrinkage |
| III | Atrophia bulbi with shrinkage and disorganization (phthisis bulbi) |
| IV | Phthisis bulbi with intraocular ossification |
| V | Phthisis bulbi with intraocular calcium deposition |
Epidemiology
Epidemiological data on phthisis bulbi are mainly based on retrospective clinicopathological studies on enucleated eyes. Enucleations are usually the result of failed ocular treatment or end-stage diseases (i.e., phthisis bulbi) associated with blind, painful, or cosmetically unacceptable eyes. The incidence of enucleation in general has slightly decreased during the last decades because of improved diagnostic and therapeutic approaches, and the trend towards globe-preserving procedures; however, information on the incidence of phthisis bulbi is limited. In contrast, the prevalence of phthisis bulbi in enucleated eyes is well documented, ranging from 11.2% to 18.7% with an average of 13.7%, and has remained fairly stable over the last 60 years ( Table 54.2 ). However, statistical evaluations indicate a slight increase in the number of enucleations for phthisis bulbi during the last two decades.
| Publication | Enucleated eyes | Initial insult resulting in phthisis bulbi | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Authors | Observation period(years) | Overall( n ) | Phthisical | Trauma | Surgery | Inflammation | ||||
| ( n ) | (%) | ( n ) | (%) | ( n ) | (%) | ( n ) | (%) | |||
| Naumann and Portwich | 1969–1974 | 1000 | 118 | 11.8 | 77 | 65.3 | 24 | 20.3 | 9 | 7.6 |
| de Gottrau et al | 1980–1990 | 1146 | 214 | 18.7 | 137 | 64.0 | 46 | 21.5 | 6 | 2.8 |
| Gassler and Lommatzsch | 1980–1990 | 817 | 97 | 11.9 | 23 | 23.7 | 62 | 64.0 | 5 | 5.2 |
| Guenlap et al | 1945–1995 | 3506 | 587 | 16.7 | N/A | N/A | N/A | N/A | N/A | N/A |
| Kitzmann et al | 1990–2000 | 523 | 61 | 11.7 | 22 | 36.1 | 8 | 13.1 | 3 | 4.9 |
| Saeed et al | 1994–2003 | 285 | 32 | 11.2 | N/A | N/A | N/A | N/A | N/A | N/A |
In general, phthisis bulbi involves elderly patients, usually 65–85 years of age. Children and adolescents (≤20 years of age) are only rarely affected (3.7–6.4%), mainly due to ocular trauma and congenital malformations. Right and left eyes are almost equally affected. The initial insult usually takes place 20–30 years prior to enucleation. Two age peaks at 35 and 75 years of age were found in 69 phthisical eyes with previous trauma. Overall, phthisis bulbi occurs more often in males than in females. The imbalance in sex distribution, at least in part, can be explained by predominance of ocular trauma (i.e., concussion, perforation) in the past ocular history of patients with phthisis bulbi, which occurs more often in men than women.
Genetics
A possible relationship between myotonic dystrophy and ocular hypotony has been described by Kuechle and co-workers. The examined eyes displayed a diminished blood–aqueous barrier (BAB) function and diffuse choroidal edema, presumably due to elevated follicle-stimulating hormone and luteal hormone serum levels.
Diagnostic workup
Phthisical eyes are usually easily accessible for slit-lamp examination, which allows evaluation of the periocular region and structures of the anterior segment. In less advanced stages of the disease with a lack of significant corneal opacification, intraocular fibrosis (i.e., cyclitic membranes) or cataractous changes of crystalline lens, gonioscopy, direct and indirect ophthalmoscopy, fluorescein angiography, and optical coherence tomography may be useful for evaluation of the anterior-chamber angle, choroid, and retina. Once optical visualization of the intraocular structures is obscured, ultrasound biomicroscopy and other noninvasive diagnostic imaging techniques such as computed tomography (CT) and magnetic resonance imaging (MRI) may be applied to validate morphologic abnormalities of the anterior chamber and ciliary body as well as to exclude intraocular ossification, or possibly foreign bodies ( Box 54.2 ). However, the differential diagnostic utility of these imaging techniques is often limited based on the severe structural changes seen in phthisical eyes.
Useful diagnostic tools in the evaluation of phthisis bulbi include:
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Indirect/direct ophthalmoscopy
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Gonioscopy
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Fluorescein angiography
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Optical coherence tomography
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Ultrasound (A- and B-scan)
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Computed tomography (CT) and magnetic resonance imaging (MRI)
Although phthisis bulbi is defined as ocular shrinkage and ocular hypotony, intraocular pressure (IOP) readings using applanation or impression tonometry devices (i.e., Goldmann, Schiotz), may be inaccurate because of the anatomical changes of the anterior segment (i.e., corneal edema, scarring, shrinkage) and the sunken location of the eyes in the orbit.
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 potential disease entity which, if not treated properly, may result in 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 phthisis is missing. In addition, congenital abnormalities like microphthalmos and microcornea should be kept in the differential diagnosis of phthisis bulbi.
Treatment
Therapeutic approaches are very limited in phthisical eyes; symptomatic treatment (i.e., artificial tears, ointments, topical corticosteroids, nonsteroidal eye drops, anti-infectious agents) may be recommended in patients with mild ocular symptoms (i.e., irritation, pain). Contact lenses or scleral shells can be used for cosmetic purposes. Once phthisical eyes become chronically irritated and painful, enucleation or evisceration with implantation of an intraocular or orbital implant should be performed, especially with regard to potential long-term complications (i.e., sympathetic ophthalmia, ulceration, perforation) and to exclude intraocular malignancies.
Prognosis and complications
The diagnosis of phthisical eyes implies a frustrating clinical situation demonstrating the result of failed previous ocular therapy in which restoration of the morphologic and functional integrity of the eye is not possible. Most phthisical eyes eventually become blind, painful, and cosmetically unacceptable for the patient. Potential harmful complications include corneal ulceration and perforation with the risk of ocular and periocular inflammation (i.e., panophthalmitis), sympathetic ophthalmia, and malignant transformation.
Clinical features
Phthisical eyes are usually easy to detect by inspection of the patient’s face and are summarized in Table 54.3 . The diagnosis is simplified due to the unilaterality of the disease with asymmetry of the eyeballs and interpalpebral fissures. Additional indirect clinical signs include narrow lid fissures (pseudoptosis), lagophthalmos, pseudoenophthalmos, small-sized and soft, hypotonic (IOP 5 mmHg) eyes ( Figure 54.1A ; Box 54.3 ). Axial displacement in relation to the surrounding structures may occur in advanced stages, which are often associated with vision loss. The conjunctiva may be swollen (chemotic) and hyperemic. The appearance of cornea is variable displaying corneal haze, scarred, vascularization, and dystrophic calcification ( Figure 54.1B ). The anterior chamber is usually shallow, demonstrating a narrow to closed chamber angle. Synechia (peripheral, posterior), neovascularization of the iris surface and chamber angle (rubeosis iridis), fibrotic or fibrovascular membranes at the pupil may be present, often as a result of intraocular hypoxia or recurrent episodes of intraocular inflammation (uveitis). The lens usually undergoes cataractous changes and may become floppy (lentodonesis) because of anterior displacement of the ciliary body. The choroid and retina are often detached by retrolenticular or epiretinal membranes.
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