Diagnosis of epiphora is clinical by history presentation and observation of the lids. Fluorescein dye can be used to examine for punctal reflux by pressing on the canaliculi in which the clinician should note resistance of reflux as it irrigates through the punctum into the nose.

If epiphora is caused by ectropion or entropion, lid repair is indicated. Punctal irrigation is also required. In infants with nasolacrimal defects, a nasolacrimal duct probe is used and a tube replacement, either temporary (Crawford) or permanent (Jones), is carried out. A surgical procedure called a dacryocystorhinostomy is done to join the lacrimal sac to the nasal mucosa in order to restore lacrimal drainage.

In all forms of blepharitis, Optometrists or Ophthalmologists examine the tear film, which is the most efficient method in determining instability. The most frequently used method is to measure tear production via tear break-up time (TBUT), which calculates the duration interval between complete blinks. This serves as a primary indication of regional dryness in the pre-corneal tear film after fluorescein injections. If TBUT is shorter than 10 seconds, then this suggests instability.

Staphylococcal blepharitis is diagnosed by examining erythema and edema of the eyelid margin. Patients may exhibit alopecia areata of eyelashes and/or growth misdirection, trichiasis. Other signs may include telangiectasia on the anterior eyelid, collarettes encircling the lash base, and corneal changes. Seborrheic blepharitis is distinguished by less erythema, edema, and telangiectasia of the eyelid margins. Posterior blepharitis and Meibomian Gland Dysfunction are frequently associated with rosacea and can be seen during an ocular examination of the posterior eyelid margin. The meibomian glands may appear caked with oil or visibly obstructed.

Cultures of the eyelid margins can be a clear indicator for patients suffering from recurrent anterior blepharitis with severe inflammation, in addition to patients who are not responding to therapy. Measurements of tear osmolarity may be beneficial in diagnosing concurrent dry eye syndrome (DES), which may be responsible for overlapping symptoms and would allow the physician to decipher between conditions and move forward with the most beneficial protocol for the patient. Consequently, the measurement of tear osmolarity has various limitations in differentiating between aqueous deficiencies and evaporative dry eye. Microscopic evaluation of epilated eyelashes may reveal mites, which have been evident in cases of chronic blepharoconjunctivitis. A biopsy of the eyelid can also determine the exclusion of carcinoma, therapy resistance, or unifocal recurrent chalazia.

Ectropion in dogs usually involves the lower eyelid. Often the condition has no symptoms, but tearing and conjunctivitis may be seen. Breeds associated with ectropion include the Cocker Spaniel, the Saint Bernard, the Bloodhound, the Clumber Spaniel, and the Basset Hound. It can also result from trauma or nerve damage. Treatment (surgery) is recommended only if there is chronic conjunctivitis or if there is corneal damage. A small part of the affected lid is removed and then the lid is sewn back together.

Ectropion is a medical condition in which the lower eyelid turns outwards. It is one of the notable aspects of newborns exhibiting congenital Harlequin-type ichthyosis, but ectropion can occur due to any weakening of tissue of the lower eyelid. The condition can be repaired surgically. Ectropion is also found in dogs as a genetic disorder in certain breeds.

Due to the different underlying causes, proper diagnosis, treatment, and prognosis can only be determined by an eye care professional. Punctate epithelial erosions may be treated with artificial tears. In some disorders, topical antibiotic is added to the treatment. Patients should discontinue contact lens wear until recovery.

A surgeon trained to do eyelid surgery, such as a plastic surgeon or ophthalmologist, is required to decide and perform the appropriate surgical procedure. The following procedures have been described for blepharochalasis:

- External levator aponeurosis tuck

- Blepharoplasty

- Lateral canthoplasty

- Dermis fat grafts

These are used to correct atrophic blepharochalasis after the syndrome has run its course.

It is encountered more commonly in younger rather than older individuals.

Blepharophimosis is a congenital condition characterized by a horizontally narrow palpebral fissure. It is also part of a syndrome blepharophimosis, ptosis, and epicanthus inversus syndrome, also called blepharophimosis syndrome, which is a condition where the patient has bilateral ptosis with reduced lid size, vertically and horizontally. The nasal bridge is flat and there is hypoplastic orbital rim. Both the vertical and horizontal palpebral fissures (eyelid opening) are shortened; the eyes are also spaced more widely apart than usual, also known as telecanthus.

Vignes (1889) probably first described this entity, a dysplasia of the eyelids.

In addition to small palpebral fissures, features include epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, ptosis of the eyelids and telecanthus.

Punctate epithelial erosions may be seen with different disorders:

- Rosacea

- Dry-eye syndrome

- Blepharitis

- Acute bacterial conjunctivitis

- Trauma

- Exposure keratopathy from poor eyelide closure

- Ultraviolet or chemical burn

- Contact lens-related disorder such as toxicity or tight lens syndrome

- Trichiasis

- Entropion or ectropion

- Floppy eyelid syndrome

- Chemotherapy i.e. cytosine arabinoside

- Thygeson's Superficial Punctate Keratopathy

The diagnosis of harlequin-type ichthyosis relies on both physical examination and certain laboratory tests.

Physical assessment at birth is vital for the initial diagnosis of harlequin ichthyosis. Physical examination reveals characteristic symptoms of the condition especially the abnormalities in the skin surface of newborns. Abnormal findings in physical assessments usually result in employing other diagnostic tests to ascertain the diagnosis.

Genetic testing is the most specific diagnostic test for harlequin ichthyosis. This test reveals a loss of function mutation on the ABCA12 gene. This gene is important in the regulation of protein synthesis for the development of the skin layer. Mutations in the gene may cause impaired transport of lipids in the skin layer and may also lead to shrunken versions of the proteins responsible for skin development. Less severe mutations result in a collodion membrane and congenital ichthyosiform erythroderma-like presentation. ABCA12 is an ATP binding cassette (ABC) transporter, and is a member of a large family of proteins that hydrolyze ATP to transport cargo across membranes. ABCA12 is thought to be a lipid transporter in keratinocytes necessary for lipid transport into lamellar granules during the formation of the lipid barrier.

Biopsy of skin may be done to assess the histologic characteristics of the cells. Histological findings usually reveal hyperkeratotic skin cells, which leads to a thick, white and hard skin layer.

Overheating: The scaling of the skin prevents normal sweating so hot weather and/or vigorous exercise can cause problems.

Eye problems: The eyelids can be pulled down by the tightness of the skin and this can make eyelids (but usually just the lower one) very red and they are prone to drying and irritation.

Constriction bands: Very rarely children with this condition can have tight bands of skin around their fingers or toes (usually at the tips) that can prevent proper blood circulation to the area.

Hair loss: Severe scaling of the skin on the scalp can lead to patchy loss of hair, but this is rarely permanent.

Constant care is required to moisturise and protect the skin. The hard outer layer eventually peels off, leaving the vulnerable inner layers of the dermis exposed. Early complications result from infection due to fissuring of the hyperkeratotic plates and respiratory distress due to physical restriction of chest wall expansion.

Management includes supportive care and treatment of hyperkeratosis and skin barrier dysfunction. A humidified incubator is generally used. Intubation is often required until nares are patent. Nutritional support with tube feeds is essential until eclabium resolves and infants can begin nursing. Ophthalmology consultation is useful for the early management of ectropion, which is initially pronounced and resolves as scale is shed. Liberal application of petrolatum is needed multiple times a day. In addition, careful debridement of constrictive bands of hyperkeratosis should be performed to avoid digital ischemia. Cases of digital autoamputation or necrosis have been reported due to cutaneous constriction bands. Relaxation incisions have been used to prevent this morbid complication.

In the past, the disorder was nearly always fatal, whether due to dehydration, infection (sepsis), restricted breathing due to the plating, or other related causes. The most common cause of death was systemic infection and sufferers rarely survived for more than a few days. However, improved neonatal intensive care and early treatment with oral retinoids, such as the drug Isotretinoin (Isotrex), may improve survival. Early oral retinoid therapy has been shown to soften scales and encourage desquamation. After as little as two weeks of daily oral isotretinoin, fissures in the skin can heal, and plate-like scales can nearly resolve. Improvement in the eclabium and ectropion can also be seen in a matter of weeks. Children who survive the neonatal period usually evolve to a less severe phenotype, resembling a severe congenital ichthyosiform erythroderma. Patients continue to suffer from temperature dysregulation and may have heat and cold intolerance. Patients can also have generalized poor hair growth, scarring alopecia, contractures of digits, arthralgias, failure to thrive, hypothyroidism, and short stature. Some patients develop a rheumatoid factor-positive polyarthritis. Survivors can also develop fish-like scales and retention of a waxy, yellowish material in seborrheic areas, with ear adhered to the scalp.

The oldest known survivor is Nusrit "Nelly" Shaheen, who was born in 1984 and is in relatively good health as of April 2016. Lifespan limitations have not yet been determined with the new treatments.

A study published in 2011 in the Archives of Dermatology concluded, "Harlequin ichthyosis should be regarded as a severe chronic disease that is not invariably fatal. With improved neonatal care and probably the early introduction of oral retinoids, the number of survivors is increasing."

As with all types of ichthyosis, there is no cure but the symptoms can be relieved.

- Moisturizers

- Prevention of overheating

- Eye drops (to prevent the eyes from becoming dried out)

- Systemic Retinoids (isotretinoin and acitretin are very effective, but careful monitoring for toxicity is required. Only severe cases may require intermittent therapy.)

Psychological therapy or support may be required as well.

Usually no treatment is indicated for clinically asymptomatic cervical ectropions. Hormonal therapy may be indicated for symptomatic erosion. If it becomes troublesome to the patient, it can be treated by discontinuing oral contraceptives, cryotherapy treatment, or by using ablation treatment under local anaesthetic. Ablation involves using a preheated probe (100 °C) to destroy 3–4 mm of the epithelium. In post-partum erosion, observation and re-examination are necessary for 3 months after labour.

Cervical ectropion can be associated with excessive but non-purulent vaginal discharge due to the increased surface area of columnar epithelium containing mucus-secreting glands. It may also give rise to post-coital bleeding, as fine blood vessels present within the columnar epithelium are easily traumatised.

The diagnosis of PPS has been made in several ethnic groups, including Caucasian, Japanese, and sub-Saharan African. Males and females are equally likely to suffer from the syndrome. Since the disorder is very rare, its incidence rate is difficult to estimate, but is less than 1 in 10,000.

A number of preventative measures are recommended, including avoiding straining while attempting to defecate, avoiding constipation and diarrhea either by eating a high-fiber diet and drinking plenty of fluid or by taking fiber supplements, and getting sufficient exercise. Spending less time attempting to defecate, avoiding reading while on the toilet, and losing weight for overweight persons and avoiding heavy lifting are also recommended.

Hemorrhoids are typically diagnosed by physical examination. A visual examination of the anus and surrounding area may diagnose external or prolapsed hemorrhoids. A rectal exam may be performed to detect possible rectal tumors, polyps, an enlarged prostate, or abscesses. This examination may not be possible without appropriate sedation because of pain, although most internal hemorrhoids are not associated with pain. Visual confirmation of internal hemorrhoids may require anoscopy, insertion of a hollow tube device with a light attached at one end. The two types of hemorrhoids are external and internal. These are differentiated by their position with respect to the dentate line. Some persons may concurrently have symptomatic versions of both. If pain is present, the condition is more likely to be an anal fissure or an external hemorrhoid rather than an internal hemorrhoid.

Van der Woude syndrome (VDWS) and popliteal pterygium syndrome (PPS) are allelic variants of the same condition; that is, they are caused by different mutations of the same gene. PPS includes all the features of VDWS, plus popliteal pterygium, syngnathia, distinct toe/nail abnormality, syndactyly, and genito-urinary malformations.

CIE has symptoms very similar to Lamellar ichthyosis (LI) but milder and is considered by many scientists to be a variant of that disease, so both diseases are grouped under the title autosomal recessive congenital ichthyosis (ARCI).

The baby is often born in a collodion membrane, a shiny, wax outer layer on the skin and usually with ectropion, having the lower eyelid turned outwards. When the membrane is shed the skin is red with a generalized white scale. Palms, soles and areas on the joints are often affected with hyperkeratosis, a thickening of the layer of dead skin cells on the surface of the skin. In classical CIE (unlike LI) there is little eclabion (eversion of the lips), ectropion and alopecia (hair loss).

Many people with ACRI don't fit neatly into the definition of LI or CIE but have characteristics of both diseases. The definitions of CIE and LI describe the extremes of the range of ACRI.

Congenital Ichthyosiform Erythroderma (CIE), also known as Nonbullous congenital ichthyosiform erythroderma is a rare type the ichthyosis family of skin diseases which occurs in 1 in 200,000 to 300,000 births.